부산대학교 도서관

Wall, Steven A ; Harwin, William

In Mechatronics 2001 11(4):371-387

Cuperus, Iris E; Mathijssen, Irene M J; van Veelen, Marie-Lise C; Bouzariouh, Anouar; Stubelius, Ingrid; Kölby, Lars; Lundborg, Christopher; Das, Sumit; Johnson, David; Wall, Steven A; Larysz, Dawid F; Dowgierd, Krzysztof; Koszowska, Małgorzata; Schulz, Matthias; Gratopp, Alexander; Thomale, Ulrich-Wilhelm; Zafra Vallejo, Víctor; Redondo Alamillos, Marta; Ferreras Vega, Rubén; Apolito, Michela; Vergnaud, Estelle; Paternoster, Giovanna; Khonsari, Roman H

Plastic and Reconstructive Surgery. 154(6):1281-1292

Walton IS; MRC Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, Oxford, UK.; McCann E; Department of Clinical Genetics, Liverpool Women's NHS Foundation Trust, Liverpool, England, UK.; Weber A; Department of Clinical Genetics, Liverpool Women's NHS Foundation Trust, Liverpool, England, UK.; Morton JEV; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham, UK.; Birmingham Craniofacial Unit, Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham, UK.; Noons P; Birmingham Craniofacial Unit, Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham, UK.; Wilson LC; Clinical Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.; Ching RC; Oxford Craniofacial Unit, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; Cilliers D; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; Johnson D; Oxford Craniofacial Unit, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; Phipps JM; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; Shears DJ; Oxford Craniofacial Unit, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; Thomas GPL; Oxford Craniofacial Unit, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; Wall SA; Oxford Craniofacial Unit, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; Twigg SRF; MRC Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, Oxford, UK.; Wilkie AOM; MRC Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, Oxford, UK.; Oxford Craniofacial Unit, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.

Publisher: Blackwell Publishing Country of Publication: England NLM ID: 0137162 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1469-7580 (Electronic) Linking ISSN: 00218782 NLM ISO Abbreviation: J Anat Subsets: MEDLINE

Fennell, Nathalie; Foulds, Nicola; Johnson, Diana S; Wilson, Louise C; Wyatt, Michelle; Robertson, Stephen P; Johnson, David; Wall, Steven A; Wilkie, Andrew OM

European Journal of Human Genetics. Dec2015, Vol. 23 Issue 12, p1684-1688. 5p.

Justice, Cristina M; Yagnik, Garima; Kim, Yoonhee; Peter, Inga; Jabs, Ethylin Wang; Erazo, Monica; Ye, Xiaoqian; Ainehsazan, Edmond; Shi, Lisong; Cunningham, Michael L; Kimonis, Virginia; Roscioli, Tony; Wall, Steven A; Wilkie, Andrew O M; Stoler, Joan; Richtsmeier, Joan T; Heuzé, Yann; Sanchez-Lara, Pedro A; Buckley, Michael F; Druschel, Charlotte M

Nature Genetics. Dec2012, Vol. 44 Issue 12, p1360-1364. 5p. 1 Chart, 2 Graphs.

Johnson, David; Wall, Steven A; Mann, Susan; Wilkie, Andrew OM

European Journal of Human Genetics. Aug2000, Vol. 8 Issue 8, p571. 7p.

Sharma, Vikram P ; Fenwick, Aimée L ; Brockop, Mia S ; McGowan, Simon J ; Goos, Jacqueline AC ; Hoogeboom, A Jeannette M ; Brady, Angela F ; Jeelani, Owase ; Lynch, Sally Ann ; Mulliken, John B ; Murray, Dylan J ; Phipps, Julie M ; Sweeney, Elizabeth ; Tomkins, Susan E ; Wilson, Louise C ; Bennett, Sophia ; Cornall, Richard J ; Broxholme, John ; Kanapin, Alexander ; Donnelly, Peter ; Johnson, David ; Wall, Steven A ; van der Spek, Peter J ; Mathijssen, Irene MJ ; Maxson, Robert E ; Twigg, Stephen RF ; Wilkie, Andrew OM

In The Lancet 27 February 2013 381 Supplement 1:S114-S114

Reijnders, Margot RF; Miller, Kerry A; Alvi, Mohsan; Goos, Jacqueline AC; Lees, Melissa M; de Burca, Anna; Henderson, Alex; Kraus, Alison; Mikat, Barbara; de Vries, Bert BA; Isidor, Bertrand; Kerr, Bronwyn; Marcelis, Carlo; Schluth-Bolard, Caroline; Deshpande, Charu; Ruivenkamp, Claudia AL; Wieczorek, Dagmar; Study, The Deciphering Developmental Disorders; Baralle, Diana; Blair, Edward M; Engels, Hartmut; Lüdecke, Hermann-Josef; Eason, Jacqueline; Santen, Gijs WE; Clayton-Smith, Jill; Chandler, Kate; Tatton-Brown, Katrina; Payne, Katelyn; Helbig, Katherine; Radtke, Kelly; Nugent, Kimberly M; Cremer, Kirsten; Strom, Tim M; Bird, Lynne M; Sinnema, Margje; Bitner-Glindzicz, Maria; van Dooren, Marieke F; Alders, Marielle; Koopmans, Marije; Brick, Lauren; Kozenko, Mariya; Harline, Megan L; Klaassens, Merel; Steinraths, Michelle; Cooper, Nicola S; Edery, Patrick; Yap, Patrick; Terhal, Paulien A; van der Spek, Peter J; Lakeman, Phillis; Taylor, Rachel L; Littlejohn, Rebecca O; Pfundt, Rolph; Mercimek-Andrews, Saadet; Stegmann, Alexander PA; Kant, Sarina G; McLean, Scott; Joss, Shelagh; Swagemakers, Sigrid MA; Douzgou, Sofia; Wall, Steven A; Küry, Sébastien; Calpena, Eduardo; Koelling, Nils; McGowan, Simon J; Twigg, Stephen RF; Mathijssen, Irene MJ; Nellaker, Christoffer; Brunner, Han G; Wilkie, Andrew OM

Am J Hum Genet
American Journal of Human Genetics, 102, 6, pp. 1195-1203
Am. J. Hum. Genet. 102, 1195-1203 (2018)
The Deciphering Developmental Disorders Study, Kerr, B, Clayton-Smith, J, Chandler, K & Taylor, R L 2018, 'De Novo and Inherited Loss-of-Function Variants in TLK2 : Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder', American Journal of Human Genetics, vol. 102, no. 6, pp. 1195-1203. https://doi.org/10.1016/j.ajhg.2018.04.014
American Journal of Human Genetics, vol 102, iss 6

Wall, Steven A; Brewster, Stephen A

International Journal on Disability and Human Development. 5(2):179-186

Wall, Steven A; Brewster, Stephen A

International Journal on Disability and Human Development. 4(4):331-338

Nicoletti P; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY.; Zafer S; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY.; Matok L; Azrieli Faculty of Medicine, Bar Ilan University, Safed, Israel.; Irron I; Department of Life Sciences, Faculty of Natural Sciences and The Center for Evolutionarily Genomics and Medicine, Ben Gurion University, Beer Sheva, Israel.; Patrick M; Department of Life Sciences, Faculty of Natural Sciences and The Center for Evolutionarily Genomics and Medicine, Ben Gurion University, Beer Sheva, Israel.; Haklai R; Department of Life Sciences, Faculty of Natural Sciences and The Center for Evolutionarily Genomics and Medicine, Ben Gurion University, Beer Sheva, Israel.; Evangelista JE; Department of Pharmacological Sciences, Icahn School of Medicine at Mount Sinai, New York, NY.; Marino GB; Department of Pharmacological Sciences, Icahn School of Medicine at Mount Sinai, New York, NY.; Ma'ayan A; Department of Pharmacological Sciences, Icahn School of Medicine at Mount Sinai, New York, NY.; Sewda A; Department of Pediatrics, Columbia University Irving Medical Center, New York, NY.; Holmes G; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY.; Britton SR; Department of Population Health Sciences, Weill Cornell Medical College of Cornell University New York, NY.; Lee WJ; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY.; Wu M; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY.; Ru Y; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY.; Arnaud E; Department of Neurosurgery, Necker Enfants Malades Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France.; Botto L; Department of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, Utah.; Brody LC; Social and Behavioral Research Branch, National Human Genome Research Institute, Bethesda, MD.; Byren JC; Craniofacial Unit, Department of Plastic Surgery, Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom.; Caggana M; Division of Genetics, Wadsworth Center, New York State Department of Health, Albany, NY.; Carmichael SL; Department of Pediatrics, Department of Obstetrics and Gynecology, Stanford University, Stanford, CA.; Cilliers D; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom.; Conway K; Department of Epidemiology, University of Iowa, Iowa City, IA.; Crawford K; MRC Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, Oxford, United Kingdom.; Cuellar A; Department of Pediatrics, University of California, Davis, CA.; Di Rocco F; Hôpital Femme Mère Enfant Hospices Civils de Lyon, Université Claude Bernard Lyon 1, Lyon, France.; Engel M; Department of Oral and Cranio-Maxillofacial Surgery, Heidelberg University Hospital, Heidelberg, Germany.; Fearon J; The Craniofacial Center, Medical City Children's Hospital Dallas, Dallas, TX.; Feldkamp ML; Department of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, Utah.; Finnell R; Center for Precision Environmental Health, Department of Molecular and Cell Biology, Baylor College of Medicine, Houston, Texas.; Fisher S; Birth Defects Registry, New York State Department of Health, Albany, NY.; Freudlsperger C; Department of Oral and Cranio-Maxillofacial Surgery, Heidelberg University Hospital, Heidelberg, Germany.; Garcia-Fructuoso G; Hospital Sant Joan de Deu, Hospital Sant Joan de Deu, Barcelona, Spain.; Hagge R; Department of Epidemiology, University of Iowa, Iowa City, IA.; Heuzé Y; Université de Bordeaux, CNRS, Ministère de la Culture, PACEA, Pessac, France.; Harshbarger RJ; Department of Surgery, Division of Pediatric Plastic Surgery, UT Austin, Austin, TX.; Hobbs C; Rady Children's Institute for Genomic Medicine, San Diego, CA.; Howley M; Birth Defects Registry, New York State Department of Health, Albany, NY.; Jenkins MM; Division of Birth Defects and Infant Disorders, Centers for Disease Control and Prevention, Atlanta, GA.; Johnson D; Craniofacial Unit, Department of Plastic Surgery, Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom.; Justice CM; Computational and Statistical Genomics Branch, National Human Genome Research Institute, Baltimore, MD.; Kane A; Department of Plastic Surgery, UT Southwestern Medical Center, Dallas, TX.; Kay D; Division of Genetics, Wadsworth Center, New York State Department of Health, Albany, NY.; Gosain AK; Department of Surgery, Division of Pediatric Plastic Surgery, Children's Hospital of Chicago, Northwestern University, Chicago, IL.; Langlois P; Division of Epidemiology, Human Genetics and Environmental Sciences, University of Texas School of Public Health, Austin Campus, Austin, TX.; Legal-Mallet L; Laboratory of Molecular and Physiopathological Bases of Osteochondrodysplasia, Université de Paris Cité, Imagine Institute, INSERM U1163, Paris, France.; Lin AE; Medical Genetics, Mass General Hospital for Children, Harvard Medical School, Boston, MA.; Mills JL; Division of Intramural Population Health Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, MD.; Morton JEV; Birmingham Health Partners, Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham, United Kingdom.; Noons P; Birmingham Craniofacial Unit, Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham, United Kingdom.; Olshan A; Department of Epidemiology, University of North Carolina, Chapel Hill, NC.; Persing J; Division of Plastic and Reconstructive Surgery, Yale School of Medicine, New Haven, CT.; Phipps JM; MRC Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, Oxford, United Kingdom.; Redett R; Department of Plastic and Reconstructive Surgery, Johns Hopkins University, Baltimore, MD.; Reefhuis J; Division of Birth Defects and Infant Disorders, Centers for Disease Control and Prevention, Atlanta, GA.; Rizk E; Department of Neurosurgery, Pennsylvania State University Medical Center, Hershey, PA.; Samson TD; Division of Plastic and Reconstructive Surgery, Department of Surgery, Pennsylvania State University Medical Center, Hershey, PA.; Shaw GM; Department of Pediatrics, Stanford University, Stanford, CA.; Sicko R; Division of Genetics, Wadsworth Center, New York State Department of Health, Albany, NY.; Smith N; Neuroscience Institute, Pennsylvania State University, College of Medicine, Hershey Medical Center, Hershey, PA.; Staffenberg D; Hansjörg Wyss Department of Plastic Surgery, NYU Langone Medical Center, Hassenfeld Children's Hospital, New York, NY.; Stoler J; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA.; Sweeney E; Department of Clinical Genetics, Liverpool Women's Hospital NHS Trust, Liverpool, United Kingdom.; Taub PJ; Division of Plastic and Reconstructive Surgery, Icahn School of Medicine at Mount Sinai, New York, NY.; Timberlake AT; Hansjörg Wyss Department of Plastic Surgery, NYU Langone Medical Center, Hassenfeld Children's Hospital, New York, NY.; Topczewska J; Department of Surgery, Division of Pediatric Plastic Surgery, Children's Hospital of Chicago, Northwestern University, Chicago, IL.; Wall SA; Craniofacial Unit, Department of Plastic Surgery, Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom.; Wilson AF; Computational and Statistical Genomics Branch, National Human Genome Research Institute, Baltimore, MD.; Wilson LC; Clinical Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.; Boyadjiev SA; Department of Pediatrics, University of California, Davis, CA.; Wilkie AOM; MRC Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, Oxford, United Kingdom.; Richtsmeier JT; Department of Anthropology, Pennsylvania State University, University Park, PA.; Jabs EW; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY.; Romitti PA; Department of Epidemiology, University of Iowa, Iowa City, IA.; Karasik D; Azrieli Faculty of Medicine, Bar Ilan University, Safed, Israel.; Birnbaum RY; Department of Life Sciences, Faculty of Natural Sciences and The Center for Evolutionarily Genomics and Medicine, Ben Gurion University, Beer Sheva, Israel.; Peter I; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY.

Publisher: Elsevier Inc Country of Publication: United States NLM ID: 9918734281906676 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2949-7744 (Electronic) Linking ISSN: 29497744 NLM ISO Abbreviation: Genet Med Open Subsets: PubMed not MEDLINE

Babbs, Christian; Lloyd, Deborah; Pagnamenta, Alistair T; Twigg, Stephen R F; Green, Joanne; McGowan, Simon J; Mirza, Ghazala; Naples, Rebecca; Sharma, Vikram P; Volpi, Emanuela V; Buckle, Veronica J; Wall, Steven A; Knight, Samantha J L; Parr, Jeremy R; Wilkie, Andrew O M

Journal of Medical Genetics. Nov 01, 2014 51(11):737-747

Tooze RS; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, United Kingdom.; Miller KA; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, United Kingdom.; Swagemakers SMA; Department of Pathology & Clinical Bioinformatics, Erasmus University Medical Center Rotterdam, Rotterdam, The Netherlands.; Calpena E; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, United Kingdom.; McGowan SJ; Centre for Computational Biology, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, United Kingdom.; Boute O; Univ. Lille, CHU Lille, ULR 7364 - RADEME - Maladies Rares du Développement Embryonnaire et du Métabolisme, Clinique de Génétique, Lille, France.; Collet C; Genetics Department, Robert Debré University Hospital, APHP, Paris, France.; Johnson D; Craniofacial Unit, Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom.; Laffargue F; Clinical Genetics Service and Reference Centre for Rare Developmental Abnormalities and Intellectual Disabilities, University Hospital of Clermont-Ferrand, Clermont-Ferrand, France.; de Leeuw N; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Morton JV; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham, United Kingdom.; Noons P; Department of Craniofacial Surgery, Birmingham Children's Hospital NHS Foundation Trust, Birmingham, United Kingdom.; Ockeloen CW; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Phipps JM; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, United Kingdom; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom.; Tan TY; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.; Timberlake AT; Hansjörg Wyss Department of Plastic Surgery, NYU Langone Medical Center, New York, NY.; Vanlerberghe C; Univ. Lille, CHU Lille, ULR 7364 - RADEME - Maladies Rares du Développement Embryonnaire et du Métabolisme, Clinique de Génétique, Lille, France.; Wall SA; Craniofacial Unit, Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom.; Weber A; Liverpool Centre for Genomic Medicine, Liverpool Women's NHS Foundation Trust, Liverpool, United Kingdom.; Wilson LC; North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.; Zackai EH; Clinical Genetics Center, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA.; Mathijssen IMJ; Department of Plastic and Reconstructive Surgery and Hand Surgery, Erasmus Medical Centre, University Medical Centre Rotterdam, Rotterdam, The Netherlands.; Twigg SRF; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, United Kingdom. Electronic address: stephen.twigg@imm.ox.ac.uk.; Wilkie AOM; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, United Kingdom.

Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

Fenwick, Aimee L; Kliszczak, Maciej; Cooper, Fay; Murray, Jennie; Sanchez-Pulido, Luis; Twigg, Stephen R F; Goriely, Anne; McGowan, Simon J; Miller, Kerry A; Taylor, Indira B; Logan, Clare; Bozdogan, Sevcan; Danda, Sumita; Dixon, Joanne; Elsayed, Solaf M; Elsobky, Ezzat; Gardham, Alice; Hoffer, Mariette J V; Koopmans, Marije; McDonald-McGinn, Donna M; Santen, Gijs W E; Savarirayan, Ravi; de Silva, Deepthi; Vanakker, Olivier; Wall, Steven A; Wilson, Louise C; Yuregir, Ozge Ozalp; Zackai, Elaine H; Ponting, Chris P; Jackson, Andrew P; Wilkie, Andrew O M; Niedzwiedz, Wojciech; Bicknell, Louise S

Fenwick, A L, Kliszczak, M, Cooper, F, Murray, J, Sanchez-Pulido, L, Twigg, S R F, Goriely, A, McGowan, S J, Miller, K A, Taylor, I B, Logan, C, Bozdogan, S, Danda, S, Dixon, J, Elsayed, S M, Elsobky, E, Gardham, A, Hoffer, M J V, Koopmans, M, McDonald-McGinn, D M, Santen, G W E, Savarirayan, R, de Silva, D, Vanakker, O, Wall, S A, Wilson, L C, Yuregir, O O, Zackai, E H, Ponting, C P, Jackson, A P, Wilkie, A O M & Niedzwiedz, W & Bicknell, L S 2016, ' Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis ', American Journal of Human Genetics, vol. 99, no. 1, pp. 125-38 . https://doi.org/10.1016/j.ajhg.2016.05.019
American Journal of Human Genetics

Justice CM; Genometrics Section, Computational and Statistical Genomics Branch, Division of Intramural Research, NHGRI, NIH, Baltimore, MD, USA.; Cuellar A; Department of Pediatrics, University of California Davis, 4625 2nd Avenue, Research Building II, Sacramento, CA, 95817, USA.; Bala K; Department of Pediatrics, University of California Davis, 4625 2nd Avenue, Research Building II, Sacramento, CA, 95817, USA.; Sabourin JA; Genometrics Section, Computational and Statistical Genomics Branch, Division of Intramural Research, NHGRI, NIH, Baltimore, MD, USA.; Cunningham ML; Department of Pediatrics, Division of Craniofacial Medicine, Seattle Children's Craniofacial Center, Seattle Children's Research Institute, University of Washington, Seattle, WA, USA.; Crawford K; MRC Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, Oxford, UK.; Phipps JM; MRC Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, Oxford, UK.; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; Zhou Y; MRC Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, Oxford, UK.; Cilliers D; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; Byren JC; Craniofacial Unit, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; Johnson D; Craniofacial Unit, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; Wall SA; Craniofacial Unit, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; Morton JEV; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham, UK.; Birmingham Craniofacial Unit, Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham, UK.; Noons P; Birmingham Craniofacial Unit, Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham, UK.; Sweeney E; Department of Clinical Genetics, Liverpool Women's NHS Foundation Trust, Liverpool, England, UK.; Weber A; Department of Clinical Genetics, Liverpool Women's NHS Foundation Trust, Liverpool, England, UK.; Rees KEM; Clinical Genetics Service, Great Ormond Street Hospital for Children, NHS Foundation Trust, London, UK.; Wilson LC; Clinical Genetics Service, Great Ormond Street Hospital for Children, NHS Foundation Trust, London, UK.; Simeonov E; National Institute of Pediatrics, Sofia Medical University, Sofia, Bulgaria.; Kaneva R; Molecular Medicine Center, Department of Medical Chemistry and Biochemistry, Medical Faculty, Medical University of Sofia, Sofia, Bulgaria.; Yaneva N; National Genetic Laboratory, University Hospital of Obstetrics and Gynecology 'Maichin Dom', Medical University of Sofia, Sofia, Bulgaria.; Georgiev K; Department of Neurosurgery, University Hospital 'St. Ivan Rilski', Medical University of Sofia, Sofia, Bulgaria.; Bussarsky A; Department of Neurosurgery, University Hospital 'St. Ivan Rilski', Medical University of Sofia, Sofia, Bulgaria.; Senders C; Department of Otolaryngology, Head and Neck Surgery, University of California Davis, Sacramento, CA, USA.; Zwienenberg M; Department of Neurosurgery, University of California Davis, Sacramento, CA, USA.; Boggan J; Department of Neurosurgery, University of California Davis, Sacramento, CA, USA.; Roscioli T; Neuroscience Research Australia, University of New South Wales, Sydney, Australia.; Tamburrini G; Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.; Section of Neurosurgery, Department of Neuroscience, Università Cattolica del Sacro Cuore, Rome, Italy.; Barba M; Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.; Section of Experimental Biology, Department of Life Science and Public Health, Università Cattolica del Sacro Cuore, Rome, Italy.; Conway K; Department of Epidemiology, College of Public Health, The University of Iowa, 145 N Riverside Dr, S416 CPHB, Iowa City, IA, 52242, USA.; Sheffield VC; Department of Pediatrics, Division of Medical Genetics, Carver College of Medicine, The University of Iowa, Iowa City, IA, USA.; Brody L; Gene and Environment Interaction Section, NHGRI, Bethesda, NIHMD, USA.; Mills JL; Epidemiology Branch, Eunice Kennedy Shriver NICHD, NIH, Bethesda, MD, USA.; Kay D; Division of Genetics, NYS Department of Health, Wadsworth CenterAlbany, NY, USA.; Sicko RJ; Division of Genetics, NYS Department of Health, Wadsworth CenterAlbany, NY, USA.; Langlois PH; Birth Defects Epidemiology and Surveillance Branch, Texas Department of State Health Services, Austin, TX, USA.; Tittle RK; Department of Nutritional Sciences, University of Texas at Austin, Austin, TX, USA.; Botto LD; Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, USA.; Jenkins MM; National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, GA, USA.; LaSalle JM; Department of Medical Microbiology and Immunology, Genome Center, and MIND Institute, University of California Davis, Davis, CA, USA.; Lattanzi W; Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.; Section of Experimental Biology, Department of Life Science and Public Health, Università Cattolica del Sacro Cuore, Rome, Italy.; Wilkie AOM; MRC Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, Oxford, UK.; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; Craniofacial Unit, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; Wilson AF; Genometrics Section, Computational and Statistical Genomics Branch, Division of Intramural Research, NHGRI, NIH, Baltimore, MD, USA.; Romitti PA; Department of Epidemiology, College of Public Health, The University of Iowa, 145 N Riverside Dr, S416 CPHB, Iowa City, IA, 52242, USA. paul-romitti@uiowa.edu.; Boyadjiev SA; Department of Pediatrics, University of California Davis, 4625 2nd Avenue, Research Building II, Sacramento, CA, 95817, USA. sboyd@ucdavis.edu.

Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE

Schwerd T; Translational Gastroenterology Unit, John Radcliffe Hospital, University of Oxford, Oxford, UK.; Department of Pediatrics, Dr von Hauner Children's Hospital, LMU Munich, Munich, Germany.; Krause F; Christian-Albrechts-University Kiel, Institute of Biochemistry, Kiel, Germany.; Twigg SRF; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, UK.; Aschenbrenner D; Translational Gastroenterology Unit, John Radcliffe Hospital, University of Oxford, Oxford, UK.; Chen YH; Translational Gastroenterology Unit, John Radcliffe Hospital, University of Oxford, Oxford, UK.; Borgmeyer U; Center for Molecular Neurobiology Hamburg (ZMNH), University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Müller M; Christian-Albrechts-University Kiel, Institute of Biochemistry, Kiel, Germany.; Present Address: The Beatson Institute for Cancer Research, Glasgow, UK.; Manrique S; Division of Structural Biology, Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.; Schumacher N; Christian-Albrechts-University Kiel, Institute of Biochemistry, Kiel, Germany.; Wall SA; Craniofacial Unit, Department of Plastic and Reconstructive Surgery, Oxford University Hospitals NHS Foundation Trust, John Radcliffe Hospital, Oxford, UK.; Jung J; Translational Gastroenterology Unit, John Radcliffe Hospital, University of Oxford, Oxford, UK.; Present Address: School of Medicine, University of Glasgow, Glasgow, UK.; Damm T; Section Biomedical Imaging, Department of Radiology and Neuroradiology, University Medical Center Schleswig-Holstein, Kiel, Germany.; Glüer CC; Section Biomedical Imaging, Department of Radiology and Neuroradiology, University Medical Center Schleswig-Holstein, Kiel, Germany.; Scheller J; Institute of Biochemistry and Molecular Biology II, Medical Faculty, Heinrich-Heine-University, Düsseldorf, Germany.; Rose-John S; Christian-Albrechts-University Kiel, Institute of Biochemistry, Kiel, Germany.; Jones EY; Division of Structural Biology, Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.; Laurence A; Translational Gastroenterology Unit, John Radcliffe Hospital, University of Oxford, Oxford, UK.; Wilkie AOM; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, UK.; Craniofacial Unit, Department of Plastic and Reconstructive Surgery, Oxford University Hospitals NHS Foundation Trust, John Radcliffe Hospital, Oxford, UK.; Schmidt-Arras D; Christian-Albrechts-University Kiel, Institute of Biochemistry, Kiel, Germany.; Uhlig HH; Translational Gastroenterology Unit, John Radcliffe Hospital, University of Oxford, Oxford, UK.; Department of Paediatrics, University of Oxford, Oxford, UK.; NIHR Oxford Biomedical Research Centre, Oxford, UK.

Publisher: West China School of Stomatology, Sichuan University Country of Publication: China NLM ID: 101608652 Publication Model: eCollection Cited Medium: Print ISSN: 2095-4700 (Print) Linking ISSN: 20954700 NLM ISO Abbreviation: Bone Res Subsets: PubMed not MEDLINE

Bochukova, Elena G; Soneji, Shamit; Wall, Steven A; Wilkie, Andrew O M

Journal of Medical Genetics. Dec 01, 2010 47(12):803-808

Glass GE; Department of Surgery, Sidra Medicine, Doha, Qatar.; Division of Clinical Surgery, Weill Cornell Medical College, Doha, Qatar.; O'Hara J; Department of Craniofacial Surgery, Great Ormond Street Hospital, London, United Kingdom.; Canham N; North West Thames Regional Genetics Service, Kennedy Galton Centre, Northwick Park and St. Mark's Hospitals, Harrow, United Kingdom.; Cilliers D; Clinical Genetics Service, Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Nuffield Orthopedic Centre, Oxford, United Kingdom.; Dunaway D; Department of Craniofacial Surgery, Great Ormond Street Hospital, London, United Kingdom.; Fenwick AL; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, United Kingdom.; Jeelani NO; Department of Surgery, Sidra Medicine, Doha, Qatar.; Department of Craniofacial Surgery, Great Ormond Street Hospital, London, United Kingdom.; Johnson D; Craniofacial Unit, Department of Plastic and Reconstructive Surgery, Oxford University Hospitals NHS Trust, John Radcliffe Hospital, Oxford, United Kingdom.; Lester T; Oxford Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, The Churchill Hospital, Oxford, United Kingdom.; Lord H; Oxford Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, The Churchill Hospital, Oxford, United Kingdom.; Morton JEV; Department of Clinical Genetics, West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham, United Kingdom.; Department of Clinical Genetics, Birmingham Women's and Children's Hospitals, NHS Foundation Trust, Birmingham, United Kingdom.; Nishikawa H; Department of Craniofacial Surgery, Birmingham Children's Hospital, Birmingham, United Kingdom.; Noons P; Department of Clinical Genetics, West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham, United Kingdom.; Department of Clinical Genetics, Birmingham Women's and Children's Hospitals, NHS Foundation Trust, Birmingham, United Kingdom.; Schwiebert K; Department of Clinical & Academic Ophthalmology, Great Ormond Street Hospital, London, United Kingdom.; Shipster C; Department of Craniofacial Surgery, Great Ormond Street Hospital, London, United Kingdom.; Taylor-Beadling A; Molecular Genetics Laboratory, North East Thames Regional Genetics Service, Great Ormond Street Hospital, London, United Kingdom.; Twigg SRF; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, United Kingdom.; Vasudevan P; Department of Clinical Genetics, University Hospitals of Leicester, Glenfield Hospital, Leicester, United Kingdom.; Wall SA; Craniofacial Unit, Department of Plastic and Reconstructive Surgery, Oxford University Hospitals NHS Trust, John Radcliffe Hospital, Oxford, United Kingdom.; Wilkie AOM; Clinical Genetics Service, Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Nuffield Orthopedic Centre, Oxford, United Kingdom.; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, United Kingdom.; Craniofacial Unit, Department of Plastic and Reconstructive Surgery, Oxford University Hospitals NHS Trust, John Radcliffe Hospital, Oxford, United Kingdom.; Wilson LC; Clinical Genetics Service, Great Ormond Street Hospital, London, United Kingdom.

Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

Ching RC; Oxford Craniofacial Unit, John Radcliffe Hospital, Headley Way, Oxford, UK.; Wall SA; Johnson D

Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 9010410 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1536-3732 (Electronic) Linking ISSN: 10492275 NLM ISO Abbreviation: J Craniofac Surg Subsets: MEDLINE

Nieminen, Pekka; Morgan, Neil V; Fenwick, Aimée L; Parmanen, Satu; Veistinen, Lotta; Mikkola, Marja L; van der Spek, Peter J; Giraud, Andrew; Judd, Louise; Arte, Sirpa; Brueton, Louise A; Wall, Steven A; Mathijssen, Irene M J; Maher, Eamonn R; Wilkie, Andrew O M; Kreiborg, Sven; Thesleff, Irma

The American Journal of Human Genetics. 89:67-81