부산대학교 도서관

Walimbe AS; Division of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, 77030, USA.; Texas Children's Hospital, Houston, TX, 77030, USA.; Machol K; Texas Children's Hospital, Houston, TX, 77030, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Kralik SF; Department of Radiology, Baylor College of Medicine, Houston, TX, 77030, USA.; Mizerik EA; Texas Children's Hospital, Houston, TX, 77030, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Gofin Y; School of Medicine, Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Israel.; Genetics Institute, Meir Medical Center, Kfar Saba, Israel.; Bekheirnia MR; Texas Children's Hospital, Houston, TX, 77030, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Gijavanekar C; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Elsea SH; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Emrick LT; Division of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, 77030, USA.; Texas Children's Hospital, Houston, TX, 77030, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Scaglia F; Texas Children's Hospital, Houston, TX, 77030, USA. fscaglia@bcm.edu.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA. fscaglia@bcm.edu.; BCM-CUHK Center of Medical Genetics, Prince of Wales Hospital, Hong Kong SAR, China. fscaglia@bcm.edu.

Publisher: BioMed Central Country of Publication: England NLM ID: 100968555 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2377 (Electronic) Linking ISSN: 14712377 NLM ISO Abbreviation: BMC Neurol Subsets: MEDLINE

Li N; Department of Reproductive Genetics, International Peace Maternity and Child Health Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200030, China; Shanghai Key Laboratory of Embryo Original Diseases, International Peace Maternity and Child Health Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200030, China; Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, 200127, China; Faculty of Medical Laboratory Science, College of Health Science and Technology, Shanghai Jiao Tong University School of Medicine, Shanghai, 200025, China.; Xu Y; Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, 200127, China.; Chen H; Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, 200127, China.; Lin J; Shanghai Key Laboratory of Embryo Original Diseases, International Peace Maternity and Child Health Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200030, China.; AlAbdi L; Department of Zoology, College of Science, King Saud University, Riyadh, 11533, Saudi Arabia.; Bekheirnia MR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA; Texas Children's Hospital, Houston, TX, 77030, USA; Renal Section, Department of Pediatrics, Baylor College of Medicine, Houston, TX, 77030, USA.; Li G; Department of Reproductive Genetics, International Peace Maternity and Child Health Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200030, China; Shanghai Key Laboratory of Embryo Original Diseases, International Peace Maternity and Child Health Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200030, China.; Gofin Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA; Texas Children's Hospital, Houston, TX, 77030, USA.; Bekheirnia N; Texas Children's Hospital, Houston, TX, 77030, USA; Renal Section, Department of Pediatrics, Baylor College of Medicine, Houston, TX, 77030, USA.; Faqeih E; Department of Pediatric Subspecialties, Children's Hospital, King Fahad Medical City, Riyadh, 11533, Saudi Arabia.; Chen L; Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, 200127, China.; Chang G; Department of Endocrinology and Metabolism, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, 200127, China.; Tang J; Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, 200127, China.; Yao R; Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, 200127, China; Faculty of Medical Laboratory Science, College of Health Science and Technology, Shanghai Jiao Tong University School of Medicine, Shanghai, 200025, China.; Yu T; Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, 200127, China; Faculty of Medical Laboratory Science, College of Health Science and Technology, Shanghai Jiao Tong University School of Medicine, Shanghai, 200025, China.; Wang X; Department of Endocrinology and Metabolism, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, 200127, China.; Fu W; Institute of Pediatric Translational Medicine, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, 200127, China.; Fu Q; Institute of Pediatric Translational Medicine, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, 200127, China; Shanghai Key Laboratory of Clinical Molecular Diagnostics for Pediatrics, Shanghai, 200127, China.; Shen Y; Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, 200127, China.; Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, 11211, Saudi Arabia.; Machol K; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA; Texas Children's Hospital, Houston, TX, 77030, USA. Electronic address: Keren.Machol@bcm.edu.; Wang J; Shanghai Key Laboratory of Embryo Original Diseases, International Peace Maternity and Child Health Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200030, China; Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, 200127, China; Faculty of Medical Laboratory Science, College of Health Science and Technology, Shanghai Jiao Tong University School of Medicine, Shanghai, 200025, China; Shanghai Key Laboratory of Clinical Molecular Diagnostics for Pediatrics, Shanghai, 200127, China. Electronic address: Labwangjian@shsmu.edu.cn.

Publisher: Elsevier B.V Country of Publication: Netherlands NLM ID: 101647039 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2352-3964 (Electronic) Linking ISSN: 23523964 NLM ISO Abbreviation: EBioMedicine Subsets: MEDLINE

Rozowsky, Joel; Gao, Jiahao; Borsari, Beatrice; Yang, Yucheng T.; Galeev, Timur; Gursoy, Gamze; Epstein, Charles B.; Xiong, Kun; Xu, Jinrui; Li, Tianxiao; Liu, Jason; Yu, Keyang; Berthel, Ana; Chen, Zhanlin; Navarro, Fabio; Sun, Maxwell S.; Wright, James; Chang, Justin; Cameron, Christopher J. F.; Shoresh, Noam; Gaskell, Elizabeth; Drenkow, Jorg; Adrian, Jessika; Aganezov, Sergey; Aguet, Francois; Balderrama-Gutierrez, Gabriela; Banskota, Samridhi; Corona, Guillermo Barreto; Chee, Sora; Chhetri, Surya B.; Martins, Gabriel Conte Cortez; Danyko, Cassidy; Davis, Carrie A.; Farid, Daniel; Farrell, Nina P.; Gabdank, Idan; Gofin, Yoel; Gorkin, David U.; Gu, Mengting; Hecht, Vivian; Hitz, Benjamin C.; Issner, Robbyn; Jiang, Yunzhe; Kirsche, Melanie; Kong, Xiangmeng; Lam, Bonita R.; Li, Shantao; Li, Bian; Li, Xiqi; Lin, Khine Zin; Luo, Ruibang; Mackiewicz, Mark; Meng, Ran; Moore, Jill E.; Mudge, Jonathan; Nelson, Nicholas; Nusbaum, Chad; Popov, Ioann; Pratt, Henry E.; Qiu, Yunjiang; Ramakrishnan, Srividya; Raymond, Joe; Salichos, Leonidas; Scavelli, Alexandra; Schreiber, Jacob M.; Sedlazeck, Fritz J.; See, Lei Hoon; Sherman, Rachel M.; Shi, Xu; Shi, Minyi; Sloan, Cricket Alicia; Strattan, J. Seth; Tan, Zhen; Tanaka, Forrest Y.; Vlasova, Anna; Wang, Jun; Werner, Jonathan; Williams, Brian; Xu, Min; Yan, Chengfei; Yu, Lu; Zaleski, Christopher; Zhang, Jing; Ardlie, Kristin; Cherry, J. Michael; Mendenhall, Eric M.; Noble, William S.; Weng, Zhiping; Levine, Morgan E.; Dobin, Alexander; Wold, Barbara; Mortazavi, Ali; Ren, Bing; Gillis, Jesse; Myers, Richard M.; Snyder, Michael P.; Choudhary, Jyoti; Milosavljevic, Aleksandar; Schatz, Michael C.; Bernstein, Bradley E.; Guigo, Roderic; Gingeras, Thomas R.; Gerstein, Mark

CELL; MAR 30 2023, 186 7, p1493-p+, 60p.

In Gaceta Sanitaria November-December 2013 27(6):569-569

Manohar S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Gofin Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Streff H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Vossaert L; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Camacho P; Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Cancer and Hematology Centers, Houston, Texas, USA.; Murali CN; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.

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

Pasarín, María Isabel; Forcada, Carme; Montaner, Isabel; De Peray, Josep Lluís; Gofin, Jaime

In Gaceta Sanitaria June 2010

Keehan L; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Haviland I; Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.; Gofin Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.; Swanson LC; Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.; El Achkar CM; Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.; Schreiber J; Division of Epilepsy, Neurophysiology, and Critical Care Neurology, Children's National Hospital, Washington, District of Columbia, USA.; VanNoy GE; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; O'Heir E; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; O'Donnell-Luria A; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.; Lewis RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.; Cullen Eye Institute, Department of Ophthalmology, Baylor College of Medicine, Houston, Texas, USA.; Magoulas P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.; Tran A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Azamian MS; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Chao HT; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.; Departments of Neuroscience and Pediatrics, Division of Neurology and Developmental Neuroscience, Baylor College of Medicine, Houston, Texas, USA.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, Texas, USA.; McNair Medical Institute at the Robert and Janice McNair Foundation, Houston, Texas, USA.; Pham L; The Meyer Center for Developmental Pediatrics, Texas Children's Hospital, Houston, Texas, USA.; Samaco RC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, Texas, USA.; Elsea S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Thorpe E; Illumina, Inc., San-Diego, California, USA.; Kesari A; Illumina, Inc., San-Diego, California, USA.; Perry D; Illumina, Inc., San-Diego, California, USA.; Lee B; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.; Lalani SR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.; Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Olson HE; Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.; Burrage LC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.

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

Gofin Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas; Texas Children's Hospital, Houston, Texas.; Scott DA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas; Texas Children's Hospital, Houston, Texas; Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, Texas.

Publisher: Mosby Country of Publication: United States NLM ID: 0375410 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-6833 (Electronic) Linking ISSN: 00223476 NLM ISO Abbreviation: J Pediatr Subsets: MEDLINE

Gofin Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, United States.; Zhao X; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Baylor Genetics, Houston, Texas, USA.; Gerard A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, United States.; Scaglia F; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, United States.; Joint BCM-CUHK Center of Medical Genetics, Prince of Wales Hospital, Hong Kong SAR.; Wangler MF; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, United States.; Schrier Vergano SA; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, Virginia, USA.; Department of Pediatrics, Eastern Virginia Medical School, Norfolk, Virginia, USA.; Scott DA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, United States.; Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, Texas, USA.

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

Orenstein N; Pediatric Genetics Clinic, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.; Gofin Y; Pediatric Genetics Clinic, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.; Shomron N; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Ruhrman-Shahar N; Raphael Recanati Genetic Institute, Rabin Medical Center, Beilinson Hospital, Petach Tikva, Israel.; Magal N; Raphael Recanati Genetic Institute, Rabin Medical Center, Beilinson Hospital, Petach Tikva, Israel.; Hagari O; Raphael Recanati Genetic Institute, Rabin Medical Center, Beilinson Hospital, Petach Tikva, Israel.; Azulay N; Raphael Recanati Genetic Institute, Rabin Medical Center, Beilinson Hospital, Petach Tikva, Israel.; Bazak L; Raphael Recanati Genetic Institute, Rabin Medical Center, Beilinson Hospital, Petach Tikva, Israel.; Goldberg Y; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Raphael Recanati Genetic Institute, Rabin Medical Center, Beilinson Hospital, Petach Tikva, Israel.; Basel-Salmon L; Pediatric Genetics Clinic, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Raphael Recanati Genetic Institute, Rabin Medical Center, Beilinson Hospital, Petach Tikva, Israel.; Felsenstein Medical Research Center, Petach Tikva, Israel.

Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE