학술논문
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'학술논문'
에서 검색결과 92건 | 목록
1~20
Academic Journal
Werren, Elizabeth A.; LaForce, Geneva R.; Srivastava, Anshika; Perillo, Delia R.; Li, Shaokun; Johnson, Katherine; Baris, Safa; Berger, Brandon; Regan, Samantha L.; Pfennig, Christian D.; de Munnik, Sonja; Pfundt, Rolph; Hebbar, Malavika; Jimenez-Heredia, Raúl; Karakoc-Aydiner, Elif; Ozen, Ahmet; Dmytrus, Jasmin; Krolo, Ana; Corning, Ken; Prijoles, E. J.; Louie, Raymond J.; Lebel, Robert Roger; Le, Thuy-Linh; Amiel, Jeanne; Gordon, Christopher T.; Boztug, Kaan; Girisha, Katta M.; Shukla, Anju; Bielas, Stephanie L.; Schaffer, Ashleigh E.
Nature Communications. 15(1)
Academic Journal
van Jaarsveld, R.H.; Reilly, J.; Cornips, M.C.; Hadders, M.A.; Agolini, E.; Ahimaz, P.; Anyane-Yeboa, K.; Bellanger, S.A.; van Binsbergen, E.; van den Boogaard, M.J.; Brischoux-Boucher, E.; Caylor, R.C.; Ciolfi, A.; van Essen, T.A.; Fontana, P.; Hopman, S.; Iascone, M.; Javier, M.M.; Kamsteeg, E.J.; Kerkhof, J.; Kido, J.; Kim, H.G.; Kleefstra, T.; Lonardo, F.; Lai, A.; Lev, D.; Levy, M.A.; Lewis, M.E.S.; Lichty, A.; Mannens, M.M.; Matsumoto, N.; Maya, I.; McConkey, H.; Megarbane, A.; Michaud, V.; Miele, E.; Niceta, M.; Novelli, A.; Onesimo, R.; Pfundt, R.P.; Popp, B.; Prijoles, E.; Relator, R.; Redon, S.; Rots, D.; Rouault, K.; Saida, K.; Schieving, J.H.; Tartaglia, M.; Tenconi, R.; Uguen, K.; Verbeek, N.; Walsh, C.A.; Yosovich, K.; Yuskaitis, C.J.; Zampino, G.; Sadikovic, B.; Alders, M.; Oegema, R.
Genet Med
van Jaarsveld, R H, Reilly,J , Cornips, M-C, Hadders, M A, Agolini, E , Ahimaz, P, Anyane-Yeboa, K, Bellanger, S A, van Binsbergen, E , van den Boogaard, M-J , Brischoux-Boucher, E , Caylor, R C, Ciolfi, A, van Essen, T A J , Fontana, P, Hopman, S, Iascone, M, Javier, M M, Kamsteeg, E -J , Kerkhof, J , Kido, J , Kim, H-G, Kleefstra, T, Lonardo, F, Lai, A, Lev, D, Levy, M A, Lewis, M E S, Lichty, A, Mannens, M M A M, Matsumoto, N, Maya, I, McConkey, H, Megarbane, A, Michaud, V, Miele, E , Niceta, M, Novelli, A, Onesimo, R, Pfundt, R, Popp, B, Prijoles , E , Relator, R, Redon, S, Rots, D, Rouault, K, Saida, K, Schieving, J , Tartaglia, M, Tenconi, R, Uguen, K, Verbeek, N, Walsh, C A, Yosovich, K, Yuskaitis, C J , Zampino, G, Sadikovic, B, Alders, M & Oegema, R 2023, 'Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature', Genetics in Medicine, vol. 25, no. 1, pp. 49-62. https://doi.org/10.1016/j .gim.2022.09.006
Genetics in Medicine, 25, 1, pp. 49-62
van Jaarsveld, R H, Reilly,
Genetics in Medicine, 25, 1, pp. 49-62
Academic Journal
Rots, Dmitrijs ; Jakub, Taryn E. ; Keung, Crystal ; Jackson, Adam ; Banka, Siddharth ; Pfundt, Rolph ; de Vries, Bert B.A. ; van Jaarsveld, Richard H. ; Hopman, Saskia M.J. ; van Binsbergen, Ellen ; Valenzuela, Irene ; Hempel, Maja ; Bierhals, Tatjana ; Kortüm, Fanny ; Lecoquierre, Francois ; Goldenberg, Alice ; Hertz, Jens Michael ; Andersen, Charlotte Brasch ; Kibæk, Maria ; Prijoles, Eloise J. ; Stevenson, Roger E. ; Everman, David B. ; Patterson, Wesley G. ; Meng, Linyan ; Gijavanekar, Charul ; De Dios, Karl ; Lakhani, Shenela ; Levy, Tess ; Wagner, Matias ; Wieczorek, Dagmar ; Benke, Paul J. ; Lopez Garcia, María Soledad ; Perrier, Renee ; Sousa, Sergio B. ; Almeida, Pedro M. ; Simões, Maria José ; Isidor, Bertrand ; Deb, Wallid ; Schmanski, Andrew A. ; Abdul-Rahman, Omar ; Philippe, Christophe ; Bruel, Ange-Line ; Faivre, Laurence ; Vitobello, Antonio ; Thauvin, Christel ; Smits, Jeroen J. ; Garavelli, Livia ; Caraffi, Stefano G. ; Peluso, Francesca ; Davis-Keppen, Laura ; Platt, Dylan ; Royer, Erin ; Leeuwen, Lisette ; Sinnema, Margje ; Stegmann, Alexander P.A. ; Stumpel, Constance T.R.M. ; Tiller, George E. ; Bosch, Daniëlle G.M. ; Potgieter, Stephanus T. ; Joss, Shelagh ; Splitt, Miranda ; Holden, Simon ; Prapa, Matina ; Foulds, Nicola ; Douzgou, Sofia ; Puura, Kaija ; Waltes, Regina ; Chiocchetti, Andreas G. ; Freitag, Christine M. ; Satterstrom, F. Kyle ; De Rubeis, Silvia ; Buxbaum, Joseph ; Gelb, Bruce D. ; Branko, Aleksic ; Kushima, Itaru ; Howe, Jennifer ; Scherer, Stephen W. ; Arado, Alessia ; Baldo, Chiara ; Patat, Olivier ; Bénédicte, Demeer ; Lopergolo, Diego ; Santorelli, Filippo M. ; Haack, Tobias B. ; Dufke, Andreas ; Bertrand, Miriam ; Falb, Ruth J. ; Rieß, Angelika ; Krieg, Peter ; Spranger, Stephanie ; Bedeschi, Maria Francesca ; Iascone, Maria ; Josephi-Taylor, Sarah ; Roscioli, Tony ; Buckley, Michael F. ; Liebelt, Jan ; Dagli, Aditi I. ; Aten, Emmelien ; Hurst, Anna C.E. ; Hicks, Alesha ; Suri, Mohnish ; Aliu, Ermal ; Naik, Sunil ; Sidlow, Richard ; Coursimault, Juliette ; Nicolas, Gaël ; Küpper, Hanna ; Petit, Florence ; Ibrahim, Veyan ; Top, Deniz ; Di Cara, Francesca ; Louie, Raymond J. ; Stolerman, Elliot ; Brunner, Han G. ; Vissers, Lisenka E.L.M. ; Kramer, Jamie M. ; Kleefstra, Tjitske
In The American Journal of Human Genetics 1 June 2023 110(6):963-978
Academic Journal
Hiatt, Susan M. ; Trajkova, Slavica ; Sebastiano, Matteo Rossi ; Partridge, E. Christopher ; Abidi, Fatima E. ; Anderson, Ashlyn ; Ansar, Muhammad ; Antonarakis, Stylianos E. ; Azadi, Azadeh ; Bachmann-Gagescu, Ruxandra ; Bartuli, Andrea ; Benech, Caroline ; Berkowitz, Jennifer L. ; Betti, Michael J. ; Brusco, Alfredo ; Cannon, Ashley ; Caron, Giulia ; Chen, Yanmin ; Cochran, Meagan E. ; Coleman, Tanner F. ; Crenshaw, Molly M. ; Cuisset, Laurence ; Curry, Cynthia J. ; Darvish, Hossein ; Demirdas, Serwet ; Descartes, Maria ; Douglas, Jessica ; Dyment, David A. ; Elloumi, Houda Zghal ; Ermondi, Giuseppe ; Faoucher, Marie ; Farrow, Emily G. ; Felker, Stephanie A. ; Fisher, Heather ; Hurst, Anna C.E. ; Joset, Pascal ; Kelly, Melissa A. ; Kmoch, Stanislav ; Leadem, Benjamin R. ; Lyons, Michael J. ; Macchiaiolo, Marina ; Magner, Martin ; Mandrile, Giorgia ; Mattioli, Francesca ; McEown, Megan ; Meadows, Sarah K. ; Medne, Livija ; Meeks, Naomi J.L. ; Montgomery, Sarah ; Napier, Melanie P. ; Natowicz, Marvin ; Newberry, Kimberly M. ; Niceta, Marcello ; Noskova, Lenka ; Nowak, Catherine B. ; Noyes, Amanda G. ; Osmond, Matthew ; Prijoles, Eloise J. ; Pugh, Jada ; Pullano, Verdiana ; Quélin, Chloé ; Rahimi-Aliabadi, Simin ; Rauch, Anita ; Redon, Sylvia ; Reymond, Alexandre ; Schwager, Caitlin R. ; Sellars, Elizabeth A. ; Scheuerle, Angela E. ; Shukarova-Angelovska, Elena ; Skraban, Cara ; Stolerman, Elliot ; Sullivan, Bonnie R. ; Tartaglia, Marco ; Thiffault, Isabelle ; Uguen, Kevin ; Umaña, Luis A. ; van Bever, Yolande ; van der Crabben, Saskia N. ; van Slegtenhorst, Marjon A. ; Waisfisz, Quinten ; Washington, Camerun ; Rodan, Lance H. ; Myers, Richard M. ; Cooper, Gregory M.
In The American Journal of Human Genetics 2 February 2023 110(2):215-227
Academic Journal
Bosch, Elisabeth ; Popp, Bernt ; Güse, Esther ; Skinner, Cindy ; van der Sluijs, Pleuntje J. ; Maystadt, Isabelle ; Pinto, Anna Maria ; Renieri, Alessandra ; Bruno, Lucia Pia ; Granata, Stefania ; Marcelis, Carlo ; Baysal, Özlem ; Hartwich, Dewi ; Holthöfer, Laura ; Isidor, Bertrand ; Cogne, Benjamin ; Wieczorek, Dagmar ; Capra, Valeria ; Scala, Marcello ; De Marco, Patrizia ; Ognibene, Marzia ; Jamra, Rami Abou ; Platzer, Konrad ; Carter, Lauren B. ; Kuismin, Outi ; van Haeringen, Arie ; Maroofian, Reza ; Valenzuela, Irene ; Cuscó, Ivon ; Martinez-Agosto, Julian A. ; Rabani, Ahna M. ; Mefford, Heather C. ; Pereira, Elaine M. ; Close, Charlotte ; Anyane-Yeboa, Kwame ; Wagner, Mallory ; Hannibal, Mark C. ; Zacher, Pia ; Thiffault, Isabelle ; Beunders, Gea ; Umair, Muhammad ; Bhola, Priya T. ; McGinnis, Erin ; Millichap, John ; van de Kamp, Jiddeke M. ; Prijoles, Eloise J. ; Dobson, Amy ; Shillington, Amelle ; Graham, Brett H. ; Garcia, Evan-Jacob ; Galindo, Maureen Kelly ; Ropers, Fabienne G. ; Nibbeling, Esther A.R. ; Hubbard, Gail ; Karimov, Catherine ; Goj, Guido ; Bend, Renee ; Rath, Julie ; Morrow, Michelle M. ; Millan, Francisca ; Salpietro, Vincenzo ; Torella, Annalaura ; Nigro, Vincenzo ; Kurki, Mitja ; Stevenson, Roger E. ; Santen, Gijs W.E. ; Zweier, Markus ; Campeau, Philippe M. ; Severino, Mariasavina ; Reis, André ; Accogli, Andrea ; Vasileiou, Georgia
In Genetics in Medicine November 2023 25(11)
Academic Journal
Alexander J. M. Dingemans; Kim M. G. Truijen; Sam van de Ven; Raphael Bernier; Ernie M. H. F. Bongers; Arjan Bouman; Laura de Graaff – Herder; Evan E. Eichler; Erica H. Gerkes; Christa M. De Geus; Johanna M. van Hagen; Philip R. Jansen; Jennifer Kerkhof; Anneke J. A. Kievit; Tjitske Kleefstra; Saskia M. Maas; Stella A. de Man; Haley McConkey; Wesley G. Patterson; Amy T. Dobson; Eloise J. Prijoles; Bekim Sadikovic; Raissa Relator; Roger E. Stevenson; Connie T. R. M. Stumpel; Malou Heijligers; Kyra E. Stuurman; Katharina Löhner; Shimriet Zeidler; Jennifer A. Lee; Amanda Lindy; Fanggeng Zou; Matthew L. Tedder; Lisenka E. L. M. Vissers; Bert B. A. de Vries
Translational Psychiatry, Vol 12, Iss 1, Pp 1-11 (2022)
Academic Journal
Eric G. Bend; Erfan Aref-Eshghi; David B. Everman; R. Curtis Rogers; Sara S. Cathey; Eloise J. Prijoles; Michael J. Lyons; Heather Davis; Katie Clarkson; Karen W. Gripp; Dong Li; Elizabeth Bhoj; Elaine Zackai; Paul Mark; Hakon Hakonarson; Laurie A. Demmer; Michael A. Levy; Jennifer Kerkhof; Alan Stuart; David Rodenhiser; Michael J. Friez; Roger E. Stevenson; Charles E. Schwartz; Bekim Sadikovic
Clinical Epigenetics, Vol 11, Iss 1, Pp 1-17 (2019)
Academic Journal
Rots, Dmitrijs; Jakub, Taryn E.; Keung, Crystal; Jackson, Adam; Banka, Siddharth; Pfundt, Rolph; de Vries, Bert B.A.; van Jaarsveld, Richard H.; Hopman, Saskia M.J.; van Binsbergen, Ellen; Valenzuela, Irene; Hempel, Maja; Bierhals, Tatjana; Kortüm, Fanny; Lecoquierre, Francois; Goldenberg, Alice; Hertz, Jens Michael; Andersen, Charlotte Brasch; Kibæk, Maria; Prijoles, Eloise J.; Stevenson, Roger E.; Everman, David B.; Patterson, Wesley G.; Meng, Linyan; Gijavanekar, Charul; De Dios, Karl; Lakhani, Shenela; Levy, Tess; Wagner, Matias; Wieczorek, Dagmar; Benke, Paul J.; Lopez Garcia, María Soledad; Perrier, Renee; Sousa, Sergio B.; Almeida, Pedro M.; Simões, Maria José; Isidor, Bertrand; Deb, Wallid; Schmanski, Andrew A.; Abdul-Rahman, Omar; Philippe, Christophe; Bruel, Ange-Line; Faivre, Laurence; Vitobello, Antonio; Thauvin, Christel; Smits, Jeroen J.; Garavelli, Livia; Caraffi, Stefano G.; Peluso, Francesca; Davis-Keppen, Laura; Platt, Dylan; Royer, Erin; Leeuwen, Lisette; Sinnema, Margje; Stegmann, Alexander P.A.; Stumpel, Constance T.R.M.; Tiller, George E.; Bosch, Daniëlle G.M.; Potgieter, Stephanus T.; Joss, Shelagh; Splitt, Miranda; Holden, Simon; Prapa, Matina; Foulds, Nicola; Douzgou, Sofia; Puura, Kaija; Waltes, Regina; Chiocchetti, Andreas G.; Freitag, Christine M.; Satterstrom, F. Kyle; De Rubeis, Silvia; Buxbaum, Joseph; Gelb, Bruce D.; Branko, Aleksic; Kushima, Itaru; Howe, Jennifer; Scherer, Stephen W.; Arado, Alessia; Baldo, Chiara; Patat, Olivier; Bénédicte, Demeer; Lopergolo, Diego; Santorelli, Filippo M.; Haack, Tobias B.; Dufke, Andreas; Bertrand, Miriam; Falb, Ruth J.; Rieß, Angelika; Krieg, Peter; Spranger, Stephanie; Bedeschi, Maria Francesca; Iascone, Maria; Josephi-Taylor, Sarah; Roscioli, Tony; Buckley, Michael F.; Liebelt, Jan; Dagli, Aditi I.; Aten, Emmelien; Hurst, Anna C.E.; Hicks, Alesha; Suri, Mohnish; Aliu, Ermal; Naik, Sunil; Sidlow, Richard; Coursimault, Juliette; Nicolas, Gaël; Küpper, Hanna; Petit, Florence; Ibrahim, Veyan; Top, Deniz; Di Cara, Francesca; Louie, Raymond J.; Stolerman, Elliot; Brunner, Han G.; Vissers, Lisenka E.L.M.; Kramer, Jamie M. ; Kleefstra, Tjitske
In The American Journal of Human Genetics 6 November 2025 112(11):2814-2814
Academic Journal
Hua M; Aghanoori MR; MacPherson M; Ren Y; Yang Y; Or YY; Williams L; Gafuik CJ; Quelin C; Keren B; Schuhmann S; Vasileiou G; Bourgois A; Vitobello A; Philippe C; Stark Z; Leventer RJ; Tran-Mau-Them F; Tessarech M; Prouteau C; Lakeman P; Motazacker M; Latner DR; Caylor R; Prijoles E; Lichty A; van Ierland Y; Sweetser D; Steel E; Cobben J; Dasouki MJ; Calame D; Wang G; Rackel B; Ellis J; He G; Mahoney DJ; Innes M; Epp J; Yang G
Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE
Academic Journal
Kruszka, Paul; Porras, Antonio R.; Addissie, Yonit A.; Moresco, Angélica; Medrano, Sofia; Mok, Gary T. K.; Leung, Gordon K. C.; Tekendo‐Ngongang, Cedrik; Uwineza, Annette; Thong, Meow‐Keong; Muthukumarasamy, Premala; Honey, Engela; Ekure, Ekanem N.; Sokunbi, Ogochukwu J.; Kalu, Nnenna; Jones, Kelly L.; Kaplan, Julie D.; Abdul‐Rahman, Omar A.; Vincent, Lisa M.; Love, Amber; Belhassan, Khadija; Ouldim, Karim; El Bouchikhi, Ihssane; Shukla, Anju; Girisha, Katta M.; Patil, Siddaramappa J.; Sirisena, Nirmala D.; Dissanayake, Vajira H. W.; Paththinige, C. Sampath; Mishra, Rupesh; Klein‐Zighelboim, Eva; Gallardo Jugo, Bertha E.; Chávez Pastor, Miguel; Abarca‐Barriga, Hugo H.; Skinner, Steven A.; Prijoles, Eloise J.; Badoe, Eben; Gill, Ashleigh D.; Shotelersuk, Vorasuk; Smpokou, Patroula; Kisling, Monisha S.; Ferreira, Carlos R.; Mutesa, Leon; Megarbane, Andre; Kline, Antonie D.; Kimball, Amy; Okello, Emmy; Lwabi, Peter; Aliku, Twalib; Tenywa, Emmanuel; Boonchooduang, Nonglak; Tanpaiboon, Pranoot; Richieri‐Costa, Antonio; Wonkam, Ambroise; Chung, Brian H. Y.; Stevenson, Roger E.; Summar, Marshall; Mandal, Kausik; Phadke, Shubha R.; Obregon, María G.; Linguraru, Marius G.; Muenke, Maximilian
American Journal of Medical Genetics Part A. Sep 01, 2017 173(9):2323-2334
Academic Journal
Kruszka, Paul; Porras, Antonio R.; Addissie, Yonit A.; Moresco, Angélica; Medrano, Sofia; Mok, Gary T. K.; Leung, Gordon K. C.; Tekendo‐Ngongang, Cedrik; Uwineza, Annette; Thong, Meow‐Keong; Muthukumarasamy, Premala; Honey, Engela; Ekure, Ekanem N.; Sokunbi, Ogochukwu J.; Kalu, Nnenna; Jones, Kelly L.; Kaplan, Julie D.; Abdul‐Rahman, Omar A.; Vincent, Lisa M.; Love, Amber; Belhassan, Khadija; Ouldim, Karim; El Bouchikhi, Ihssane; Shukla, Anju; Girisha, Katta M.; Patil, Siddaramappa J.; Sirisena, Nirmala D.; Dissanayake, Vajira H. W.; Paththinige, C. Sampath; Mishra, Rupesh; Klein‐Zighelboim, Eva; Gallardo Jugo, Bertha E.; Chávez Pastor, Miguel; Abarca‐Barriga, Hugo H.; Skinner, Steven A.; Prijoles, Eloise J.; Badoe, Eben; Gill, Ashleigh D.; Shotelersuk, Vorasuk; Smpokou, Patroula; Kisling, Monisha S.; Ferreira, Carlos R.; Mutesa, Leon; Megarbane, Andre; Kline, Antonie D.; Kimball, Amy; Okello, Emmy; Lwabi, Peter; Aliku, Twalib; Tenywa, Emmanuel; Boonchooduang, Nonglak; Tanpaiboon, Pranoot; Richieri‐Costa, Antonio; Wonkam, Ambroise; Chung, Brian H. Y.; Stevenson, Roger E.; Summar, Marshall; Mandal, Kausik; Phadke, Shubha R.; Obregon, María G.; Linguraru, Marius G.; Muenke, Maximilian
American Journal of Medical Genetics Part A. Sep 01, 2017 173(9):i-i
Academic Journal
Blankenship K; University of South Carolina Genetic Counseling Program, Columbia, South Carolina, USA.; University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA.; Chieffo S; Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.; Morris E; Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.; Department of Psychiatry, University of British Columbia, Vancouver, British Columbia, Canada.; Slomp C; Department of Psychiatry, University of British Columbia, Vancouver, British Columbia, Canada.; Batallones R; Department of Psychiatry, University of British Columbia, Vancouver, British Columbia, Canada.; Prijoles E; Greenwood Genetic Center, Columbia, Columbia, South Carolina, USA.; Hill-Chapman C; University of South Carolina Genetic Counseling Program, Columbia, South Carolina, USA.; Department of Psychology, Francis Marion University, Florence, South Carolina, USA.; Austin J; Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.; Department of Psychiatry, University of British Columbia, Vancouver, British Columbia, Canada.
Publisher: Wiley Country of Publication: United States NLM ID: 9206865 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-3599 (Electronic) Linking ISSN: 10597700 NLM ISO Abbreviation: J Genet Couns Subsets: MEDLINE
Academic Journal
Werren E; University of Michigan-Ann Arbor.; LaForce G; Case Western Reserve University.; Srivastava A; Sanjay Gandhi Postgraduate Institute of Medical Sciences.; Perillo D; University of Michigan.; Johnson K; Case Western Reserve University.; Berger B; Case Western Reserve University.; Regan S; University of Michigan.; Pfennig C; University of Michigan.; Baris S; Marmara University Hospital.; de Munnik S; Radboud University Medical Centre Nijmegen.; Pfundt R; Radboud University Medical Centre.; Hebbar M; University of Washington.; Jimenez Heredia R; CeMM Research Center for Molecular Medicine.; Karakoc-Aydiner E; Marmara University Hospital.; Ozen A; Marmara University Hospital.; Dmytrus J; CeMM Research Centre for Molecular Medicine of the Austrian Academy of Sciences.; Krolo A; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases.; Corning K; Greenwood Genetic Center.; Prijoles E; Greenwood Genetic Center.; Louie R; Greenwood Genetic Center.; Lebel R; SUNY Upstate University Hospital.; Le TL; Imagine Institute, INSERM U1163, Paris Descartes University.; Amiel J; Necker.; Gordon C; Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine.; Boztug K; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases.; Girisha K; Kasturba Medical College, Manipal, Manipal Academy of Higher Education.; Shukla A; Kasturba Medical College.; Bielas S; University of Michigan-Ann Arbor.; Schaffer A; Case Western Reserve University.
Country of Publication: United States NLM ID: 101768035 Publication Model: Electronic Cited Medium: Internet ISSN: 2693-5015 (Electronic) Linking ISSN: 26935015 NLM ISO Abbreviation: Res Sq Subsets: PubMed not MEDLINE
Academic Journal
Beck, David B. ; Petracovici, Ana ; He, Chongsheng ; Moore, Hannah W. ; Louie, Raymond J. ; Ansar, Muhammad ; Douzgou, Sofia ; Sithambaram, Sivagamy ; Cottrell, Trudie ; Santos-Cortez, Regie Lyn P. ; Prijoles, Eloise J. ; Bend, Renee ; Keren, Boris ; Mignot, Cyril ; Nougues, Marie-Christine ; Õunap, Katrin ; Reimand, Tiia ; Pajusalu, Sander ; Zahid, Muhammad ; Saqib, Muhammad Arif Nadeem ; Buratti, Julien ; Seaby, Eleanor G. ; McWalter, Kirsty ; Telegrafi, Aida ; Baldridge, Dustin ; Shinawi, Marwan ; Leal, Suzanne M. ; Schaefer, G. Bradley ; Stevenson, Roger E. ; Banka, Siddharth ; Bonasio, Roberto ; Fahrner, Jill A.
In The American Journal of Human Genetics 6 February 2020 106(2):234-245
Academic Journal
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Repositório Institucional da UNESP
Universidade Estadual Paulista (UNESP)
instacron:UNESP
Universidade Estadual Paulista (UNESP)
instacron:UNESP
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Haghshenas, Sadegheh; Bout, Hidde J; Schijns, Josephine M; Levy, Michael A; Kerkhof, Jennifer; Bhai, Pratibha; McConkey, Haley; Jenkins, Zandra A; Williams, Ella M; Halliday, Benjamin J; Huisman, Sylvia A; Lauffer, Peter; de Waard, Vivian; Witteveen, Laura; Banka, Siddharth; Brady, Angela F; Galazzi, Elena; van Gils, Julien; Hurst, Anna C E; Kaiser, Frank J; Lacombe, Didier; Martinez-Monseny, Antonio F; Fergelot, Patricia; Monteiro, Fabíola P; Parenti, Ilaria; Persani, Luca; Santos-Simarro, Fernando; Simpson, Brittany N; Alders, Mariëlle; Robertson, Stephen P; Sadikovic, Bekim; Menke; Leonie A The members of the MKHK Research Consortium are An- drea Angius; Janice A. Baker; Emma Bedoukian; Vikas Bhambhani; Olaf Bodamer; Alan O’Brien; Jill Clayton- Smith; Laura Crisponi; Anna Mar ́ıa Cueto Gonza ́lez; the DDD study; Koenraad Devriendt; Elena Dominguez Gar- rido; Nadja Ehmke; Albertien van Eerde; Annette P. M. van den Elzen; Laurence Faivre; Laura Fisher; Josue A. Flores- Daboub; Alison Foster; Jennifer Friedman; Elisabeth Gabau; Elena Galazzi; Sixto Garc ́ıa-Min ̃au ́r; Livia Garavelli; That- jana Gardeitchik; Erica H. Gerkes; Julien van Gils; Jacques C. Giltay; Aixa Gonzalez Garcia; Ketil Riddervold Heimdal; Denise Horn; Gunnar Houge; Sophia B. Hufnagel; Denisa Ilencikova; Sophie Julia; Sarina G. Kant; Esther Kinning; Eric W. Klee; Chelsea Kois; Maja Kovacevi; c; A. M. A. (Guus) Lachmeijer; Brendan Lanpher; Marine Lebrun; Eyby Leon; Angie Ward Lichty; Ruth Lin; Isabel Llano-Rivas; Sally Ann Lynch; Saskia M. Maas; Silvia B. Maitz; Shane McKee; Daniela Melis; Elisabetta Merati; Giuseppe Merla; Ruth Newbury-Ecob; Mathilde Nizon; Soo-Mi Park; Jennifer Pat- terson; Florence Petit; Hilde Peeters; Luca Persani; Ivana Per- sico; Valentina Pes; Marzia Pollazzon; Thomas Potjer; Lor- raine Potocki; Carrie Pottinger; Chitra Prasad; Eloise J. Prijoles; Nicola K. Ragge; Jan Peter Rake; Conny M. A. van Ravenswaaij-Arts; Gillian Rea; Claudia Ruivenkamp; Au- drey Rutz; Sulagna C Saitta; Rossana Sanchez Russo; Gijs W. E. Santen; Elise Schaefer; Vandana Shashi; Laura Schultz-Rogers; Andrea Sluga; Stefano Sotgiu; Elisabeth Steichen-Gersdorf; Jennifer A. Sullivan; Yu Sun; Mohnish Suri; Marco Tartaglia; Matt Tedder; Paulien Terhal; Ian Tully; Nienke Verbeek; Maren Wenzel; Susan M. White; Bing Xiao.
HGG Adv
Docusalut
Conselleria de Salut i Consum del Govern de les Illes Balears
HGG Advances, Vol 5, Iss 4, Pp 100337-(2024)
MKHK Research Consortium 2024, 'Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles', Human Genetics and Genomics Advances, vol. 5, no. 3, 100287. https://doi.org/10.1016/j .xhgg.2024.100287
Docusalut
Conselleria de Salut i Consum del Govern de les Illes Balears
HGG Advances, Vol 5, Iss 4, Pp 100337-(2024)
MKHK Research Consortium 2024, 'Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles', Human Genetics and Genomics Advances, vol. 5, no. 3, 100287. https://doi.org/10.1016/
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