부산대학교 도서관

Hannah-Shmouni, Fady ; Boyd, Louisa ; Papadakis, Georgios Z. ; Tirosh, Amit ; Gahl, William A ; Estrada-Veras, Juvianee I. ; O'Brien, Kevin

In Endocrine and Metabolic Science July 2020 1(1-2)

Cooperstein, Isabelle B.; Marwaha, Shruti; Ward, Alistair; Kobren, Shilpa N.; Carter, Jennefer N.; Quinlan, Aaron; Elkadri, Abdul; Vanderver, Adeline; Rebelo, Adriana; Beggs, Alan H; La Spada, Albert R; Huang, Alden; Paul, Alex; Miller, Alexander; Bale, Allen; McConkie-Rosell, Allyn; Krokosky, Alyson; Tran, Alyssa A; Gropman, Andrea; Vargas, Andres; Crouse, Andrew B; Stergachis, Andrew; Hurst, Anna; Raper, Anna; Slavotinek, Anne; Nouraee, Arian; Tarakad, Arjun; Andrews, Ashley; McMinn, Ashley; Balasubramanyam, Ashok; Iverson, Ayuko; Pusey Swerdzewski, Barbara N; Anguiano, Beatriz; Afzali, Ben; Solomon, Ben; Martin, Beth A; Russell, Bianca E; Wilk, Brandon M; Mitchell, Breanna; Lanpher, Brendan C; Lee, Brendan H; Fogel, Brent L; Bordini, Brett; Graham, Brett H; Tucker, Brianna; Gelb, Bruce; Korf, Bruce; MacRae, Calum A; Toro, Camilo; Skraban, Cara; Bacino, Carlos A; Pardo-Villamizar, Carlos A; Prada, Carlos; Oladele, Carol; Hendry, Caroline; Smith, Carson A; Shyr, Cathy; Esteves, Cecilia; Xiao, Changrui; Cunningham-Rundles, Charlotte; Reuter, Chloe M; Eng, Christine M; Mayhew, Christopher; Chan, Chun-Hung; Wahl, Colleen E; Welt, Corrine K; Tifft, Cynthia J; Kiley, Dana; Sayer, Dana; Rader, Daniel J; Wegner, Daniel; Miller, Danny E; Scott, Daryl A; Viskochil, Dave; Sweetser, David A; Adams, David R; Barbouth, Deborah; Rao, Deepak A; Oglesbee, Devin; Bonner, Devon; Basel, Donald; Novacic, Donna; velasq, Francisco Bustos; Baldridge, Dustin; Behrens, Edward; Silverman, Edwin K; Seto, Elaine; Kravets, Elijah; Rosenthal, Elisabeth; Worthey, Elizabeth A; Burke, Elizabeth A; Blue, Elizabeth; Chao, Elizabeth C; Fieg, Elizabeth L; Wohler, Elizabeth; Macnamara, Ellen F; Balton, Elsa; Glanton, Emily; Shelkowitz, Emily; Wang, Emily; Mendonca, Eneida; Allenspach, Eric; Gamazon, Eric; Gayle, Eric; Klee, Eric; Vilain, Eric; Davis, Erica; Conboy, Erin; Baldwin, Erin E; McRoy, Erin; Dell'Angelica, Esteban C; Ashley, Euan A; Cole, F Sessions; Vairo, Filippo Pinto E; High, Frances; Vetrini, Francesco; Rossignol, Francis; Hisama, Fuki M; Marth, Gabor; Jarvik, Gail P; Clark, Gary D; Carvalho, George; Berry, Gerard T; Mirzaa, Ghayda; Sirugo, Giorgio; Kilich, Gonench; Bademci, Guney; Mendez, Hector Rodrigo; Wood, Heidi; Taylor, Herman; Tabor, Holly K; Dai, Hongzheng; Chao, Hsiao-Tuan; Xu, Hua; Bellen, Hugo J; Zhang, Hui; Glass, Ian; Lanza, Ian R; Holm, Ingrid A; Kohane, Isaac S; Ward, Isum; Chinn, Ivan; Pallais, J Carl; Sampson, Jacinda B; Orengo, James P; Verbsky, James; Sninsky, Jared; Hom, Jason; Schend, Jason; Kohler, Jennefer N; Morgan, Jennifer; Schymick, Jennifer; Tousseau, Jennifer; Wambach, Jennifer; Douglas, Jessica; Fu, Jiayu; Rosenfeld, Jill A; Shin, Jimann; Stoler, Joan M; Jen, Joanna; Gonzalez, Joanna M; Phillips, John A; Carey, John; Gorzynski, John E; Mulvihill, John J; Davis, Joie; Bernstein, Jonathan A; Whitlock, Jordan; Abdenur, Jose; Loscalzo, Joseph; Cogan, Joy D; Martínez-Agosto, Julian A; Hoover-Fong, Julie; McCarrier, Julie; Alvey, Justin; Darr, Kahlen; Yap, Kai Lee; Callaway, Kaitlin; Leppig, Kathleen A; Page, Kathleen; Sullivan, Kathleen; Sisco, Kathy; Dipple, Katrina; Treat, Kayla M; Hassey, Kelly; Regan-Fendt, Kelly; Schoch, Kelly; Smith, Kevin S; Liaqat, Khurram; Worley, Kim; Ezell, Kimberly; LeBlanc, Kimberly; Blanco, Kirsten; Latchman, Kumarie; Perera, Lakshitha; Rodan, Lance H; Keehan, Laura; Cobban, Laurel A; Blieden, Lauren; Briere, Lauren C; Jeffries, Lauren; Wiel, Laurens; Abi Farraj, Layal F; Petcharet, Leoyklang; Peart, LéShon; Mantcheva, Lili; Solnica-Krezel, Lilianna; Burrage, Lindsay C; Mulvihill, Lindsay; Bastarache, Lisa; Schimmenti, Lisa; Emrick, Lisa T; Botto, Lorenzo; Potocki, Lorraine; Bier, Louise; Rives, Lynette; Wolfe, Lynne A; Barbosa, Mafalda; Steenari, Maija-Rikka; Butte, Manish J; Balwani, Manisha; Delgado, Margaret; Romero, María José Ortuño; Silva, María Paula; Acosta, Maria T; Morimoto, Marie; Nakano-Okuno, Mariko; Shadrina, Mariya; Gerstein, Mark; Wener, Mark; Sabaii, Marla; Horike-Pyne, Martha; Martin, Martin G; Rodriguez, Martin; Koziura, Mary; Velinder, Matt; Coggins, Matthew; Might, Matthew; Robinson, Matthew; Wheeler, Matthew T; Malicdan, MayChristine V; Bell, Megan; Halley, Meghan C; Walker, Melissa; Levanto, Mia; Bamshad, Michael; Wangler, Michael F; Muriello, Michael; Zimmermann, Michael T; Spencer-Manzon, Michele; Leitheiser, Miranda; Mikati, Mohamad; Saifeddine, Mohamad; Hubshman, Monika Weisz; Lek, Monkol; Westerfield, Monte; Tekin, Mustafa; Derar, Nada; Dorrani, Naghmeh; Sobreira, Nara; Parker, Neil H; Hanchard, Neil; Borja, Nicholas; Longo, Nicola; Walley, Nicole M; Dargie, Nitsuh K; Kaufman, Odelya; Kanca, Oguz; Jean-Marie, Orpa; Goddard, Page C; Moretti, Paolo; Ward, Patricia A; Dickson, Patricia; McMullen, Patrick; Auwaerter, Paul; Berger, Paul; Fisher, Paul G; Liu, Pengfei; Byers, Peter; Witmer, Philip Dane; Bayrak-Toydemir, Pinar; Lertwilaiwittaya, Pongtawat; D'Souza, Precilla; Tan, Queenie; Ungar, Rachel A; Evard, Rachel; Li, Rachel; Quarells, Rakale C; Rajagopalan, Ramakrishnan; Alvarez, Raquel L; Blackburn, Reaford; Spillmann, Rebecca C; Ganetzky, Rebecca; Overbury, Rebecca; Barrick, Rebekah; Lewis, Richard A; Chang, Richard; Maas, Richard L; Hamid, Rizwan; Mao, Rong; Marom, Ronit; Corona, Rosario I; Kumar, Runjun; Butterfield, Russell; Attaripour, Sanaz; Nagamani, Sandesh; Emami, Sara; Shuman, Saskia; Lalani, Seema R; Perlman, Seth; Ketkar, Shamika; Sunyaev, Shamil R; Kobren, Shilpa N; Yamamoto, Shinya; Mane, Shrikant; Chanprasert, Sirisak; Nelson, Stanley F; Zuchner, Stephan; Bivona, Stephanie; Ware, Stephanie M; Montgomery, Stephen B; Pak, Stephen C; Boyden, Steven; Bachir, Suha; Dasari, Surendra; Korrick, Susan; Shin, Susan; Sandmeyer, Suzanne; Mozaffar, Tahseen; Skelton, Tammi; Jensen, Tanner D; Mamidi, Tarun KK; Beagle, Taylor; Maurer, Taylor; Washington, Teneasha; Serrano, Teodoro Jerves; Coakley, Terra R; Cassini, Thomas; Nicholas, Thomas J; Schedl, Timothy; Vogel, Tiphanie P; Jobanputra, Vaidehi; Maduro, Valerie V; Shashi, Vandana; Vasiliou, Vasilis; Sybert, Virginia; Cuddapah, Vishnu; Introne, Wendy; Raskind, Wendy; Thorson, Willa; Gahl, William A; Byrd, William E; Craigen, William J; Halstead, Winston; Timp, Winston; Huang, Yan; Karasozen, Yigit; Jiang, Yong-Hui; Manabe, Yuka; Berger, Zackary Dov; Guo, Ziyuan

Genome Medicine. October 21, 2025, Vol. 17 Issue 1

Lewis, Connor J; Vardar, Zeynep; Kühn, Anna Luisa; Johnston, Jean M; D'Souza, Precilla; Yousef, Muhammad H; Gahl, William A; Shazeeb, Mohammed Salman; Tifft, Cynthia J; Acosta, Maria T

Brain Communications; 2025, Vol. 7 Issue 3, p1-10, 10p

Wolfenson Z; Undiagnosed Diseases Program, National Institutes of Health, Bethesda, MD, USA.; Benavides D; Undiagnosed Diseases Program, National Institutes of Health, Bethesda, MD, USA.; Lewis CJ; National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.; Vezina G; Undiagnosed Diseases Program, National Institutes of Health, Bethesda, MD, USA.; Wolfe L; Undiagnosed Diseases Program, National Institutes of Health, Bethesda, MD, USA.; Macnamara E; Undiagnosed Diseases Program, National Institutes of Health, Bethesda, MD, USA.; Yang J; National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.; Heiss JD; Surgical Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.; Aldape K; Pediatric Oncology Branch, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.; Dampier C; Pediatric Oncology Branch, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.; Jackson S; Surgical Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.; Pediatric Oncology Branch, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.; Stone R; Department of Pediatrics, Department of Neurology, University of Rochester, Rochester, NY, USA.; Korones D; Department of Pediatrics, Pediatric Palliative Care, University of Rochester, Rochester, NY, USA.; Gahl WA; Undiagnosed Diseases Program, National Institutes of Health, Bethesda, MD, USA.; Acosta MT; Undiagnosed Diseases Program, National Institutes of Health, Bethesda, MD, USA. acostam@nhgri.nih.gov.

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

Kleta, Robert ; Morse, Richard P ; Orvisky, Eduard ; Krasnewich, Donna ; Alroy, Joseph ; Ucci, Angelo A ; Bernardini, Isa ; Wenger, David A ; Gahl, William A

In Molecular Genetics and Metabolism 2004 82(2):137-143

Kleta, Robert ; Stuart, Caroline ; Gill, Fred A ; Gahl, William A

In Molecular Genetics and Metabolism 2004 82(1):56-58

Huizing, Marjan ; Rakocevic, Goran ; Sparks, Susan E ; Mamali, Ioanna ; Shatunov, Alexey ; Goldfarb, Lev ; Krasnewich, Donna ; Gahl, William A ; Dalakas, Marinos C

In Molecular Genetics and Metabolism 2004 81(3):196-202

Ferrante, Elisa A; Cudrici, Cornelia D; Rashidi, Mahmood; Fu, Yi-Ping; Huffstutler, Rebecca; Carney, Katherine; Chen, Marcus Y; St Hilaire, Cynthia; Smith, Kevin; Bagheri, Hadi; Katz, James D; Ferreira, Carlos R; Gahl, William A; Boehm, Manfred; Brofferio, Alessandra

Vascular Medicine. Jun2024, Vol. 29 Issue 3, p245-255. 11p.

Cassini, Thomas A. ; Malicdan, May Christine V. ; Macnamara, Ellen F. ; Lehky, Tanya ; Horkayne-Szakaly, Iren ; Huang, Yan ; Jones, Robert ; Godfrey, Rena ; Wolfe, Lynne ; Gahl, William A ; Toro, Camilo

In Neuromuscular Disorders March 2023 33(3):257-262

Wagenknecht JB; Computational Structural Genomics Unit, Linda T. and John A. Mellowes Center for Genomic Sciences and Precision Medicine, Medical College of Wisconsin, Milwaukee, WI 53226, USA.; Haque N; Computational Structural Genomics Unit, Linda T. and John A. Mellowes Center for Genomic Sciences and Precision Medicine, Medical College of Wisconsin, Milwaukee, WI 53226, USA.; Jorge SD; Discovery and Innovation Laboratory, Linda T. and John A. Mellowes Center for Genomic Sciences and Precision Medicine, Medical College of Wisconsin, Milwaukee, WI 53226, USA.; Ratnasinghe BD; Computational Structural Genomics Unit, Linda T. and John A. Mellowes Center for Genomic Sciences and Precision Medicine, Medical College of Wisconsin, Milwaukee, WI 53226, USA.; Urrutia R; Discovery and Innovation Laboratory, Linda T. and John A. Mellowes Center for Genomic Sciences and Precision Medicine, Medical College of Wisconsin, Milwaukee, WI 53226, USA.; Department of Biochemistry, Medical College of Wisconsin, Milwaukee, WI 53226, USA.; Department of Surgery, Medical College of Wisconsin, 8701 Watertown Plank Road, Milwaukee, WI 53226, USA.; Gahl WA; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.; Ziegler SG; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.; Zimmermann MT; Computational Structural Genomics Unit, Linda T. and John A. Mellowes Center for Genomic Sciences and Precision Medicine, Medical College of Wisconsin, Milwaukee, WI 53226, USA.; Department of Biochemistry, Medical College of Wisconsin, Milwaukee, WI 53226, USA.; Data Science Institute, Medical College of Wisconsin, Milwaukee, WI 53226, USA.

Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE

Lewis CJ; Office of the Clinical Director, National Human Genome Research Institute, Bethesda, MD.; Medical Genetics Branch, National Human Genome Research Institute, Bethesda, MD.; D'Souza P; Office of the Clinical Director, National Human Genome Research Institute, Bethesda, MD.; Medical Genetics Branch, National Human Genome Research Institute, Bethesda, MD.; Johnston JM; Office of the Clinical Director, National Human Genome Research Institute, Bethesda, MD.; Medical Genetics Branch, National Human Genome Research Institute, Bethesda, MD.; Acosta MT; Office of the Clinical Director, National Human Genome Research Institute, Bethesda, MD.; Medical Genetics Branch, National Human Genome Research Institute, Bethesda, MD.; Farmer C; Neurodevelopmental and Behavioral Phenotyping Service, National Institute of Mental Health, Bethesda, MD.; Baker EH; Department of Diagnostic Radiology, National Institutes of Health Clinical Center, Bethesda, MD.; Crowell A; Office of the Clinical Director, National Human Genome Research Institute, Bethesda, MD.; Medical Genetics Branch, National Human Genome Research Institute, Bethesda, MD.; Mojica Y; Office of the Clinical Director, National Human Genome Research Institute, Bethesda, MD.; Medical Genetics Branch, National Human Genome Research Institute, Bethesda, MD.; Ashraf S; Medical Genetics Branch, National Human Genome Research Institute, Bethesda, MD.; Joseph L; Neurodevelopmental and Behavioral Phenotyping Service, National Institute of Mental Health, Bethesda, MD.; Vézina G; Division of Diagnostic Imaging and Radiology, Children's National Hospital, Washington, DC.; Quezado Z; Department of Perioperative Medicine, National Institutes of Health Clinical Center, Bethesda, MD.; Yousef MH; Department of Perioperative Medicine, National Institutes of Health Clinical Center, Bethesda, MD.; Vardar Z; Department of Radiology, University of Massachusetts Chan Medical School, Worcester.; Shazeeb MS; Department of Radiology, University of Massachusetts Chan Medical School, Worcester.; Corti M; Department of Pediatrics, University of Florida, Gainesville.; Powell Gene Therapy Center, University of Florida, Gainesville.; Blackwood M; Horae Gene Therapy Center and Li Weibo Institute for Rare Diseases Research, University of Massachusetts Chan Medical School, Worcester.; Coleman K; Powell Gene Therapy Center, University of Florida, Gainesville.; Batista R; Horae Gene Therapy Center and Li Weibo Institute for Rare Diseases Research, University of Massachusetts Chan Medical School, Worcester.; Department of Neurology, University of Massachusetts Chan Medical School, Worcester.; Thurm A; Neurodevelopmental and Behavioral Phenotyping Service, National Institute of Mental Health, Bethesda, MD.; De Boever E; EDB Consulting, Haverford, PA.; Gahl WA; Medical Genetics Branch, National Human Genome Research Institute, Bethesda, MD.; Byrne BJ; Department of Pediatrics, University of Florida, Gainesville.; Powell Gene Therapy Center, University of Florida, Gainesville.; Flotte TR; Horae Gene Therapy Center and Li Weibo Institute for Rare Diseases Research, University of Massachusetts Chan Medical School, Worcester.; Department of Cellular and Genetic Medicine, University of Massachusetts Chan Medical School, Worcester.; Jiang X; Department of Medicine, Washington University School of Medicine, St. Louis.; Gross AL; Scott-Ritchey Research Center, Department of Anatomy, Physiology, and Pharmacology, College of Veterinary Medicine, Auburn University, Auburn, AL.; Keeler AM; Horae Gene Therapy Center and Li Weibo Institute for Rare Diseases Research, University of Massachusetts Chan Medical School, Worcester.; Department of Cellular and Genetic Medicine, University of Massachusetts Chan Medical School, Worcester.; Gray-Edwards H; Department of Radiology, University of Massachusetts Chan Medical School, Worcester.; Horae Gene Therapy Center and Li Weibo Institute for Rare Diseases Research, University of Massachusetts Chan Medical School, Worcester.; Martin DR; Scott-Ritchey Research Center, Department of Anatomy, Physiology, and Pharmacology, College of Veterinary Medicine, Auburn University, Auburn, AL.; Sena-Esteves M; Horae Gene Therapy Center and Li Weibo Institute for Rare Diseases Research, University of Massachusetts Chan Medical School, Worcester.; Department of Neurology, University of Massachusetts Chan Medical School, Worcester.; Tifft CJ; Office of the Clinical Director, National Human Genome Research Institute, Bethesda, MD.; Medical Genetics Branch, National Human Genome Research Institute, Bethesda, MD.

Publisher: Massachusetts Medical Society Country of Publication: United States NLM ID: 0255562 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1533-4406 (Electronic) Linking ISSN: 00284793 NLM ISO Abbreviation: N Engl J Med Subsets: MEDLINE

Chang HE; Cognitive Neurophysiology Lab, Del Monte Institute for Neuroscience, University of Rochester School of Medicine and Dentistry, Rochester, NY, USA.; Kuan Hong Wang Lab, Del Monte Institute for Neuroscience, University of Rochester School of Medicine and Dentistry, Rochester, NY, USA.; Hossain MS; Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA. mahin.hossain@nih.gov.; Song C; Rush University Medical College, Rush University, Chicago, IL, USA.; Surampudi N; NIH Biomedical Translational Research Information System (BTRIS), Clinical Center, National Institutes of Health, Bethesda, MD, USA.; Nesterova G; PPD, Thermo Fisher Scientific, Waltham, MA, USA.; Gahl WA; Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA.

Publisher: Springer International Country of Publication: Germany NLM ID: 8708728 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-198X (Electronic) Linking ISSN: 0931041X NLM ISO Abbreviation: Pediatr Nephrol Subsets: MEDLINE

Arif M; Section on Fibrotic Disorders and.; Laboratory of Cardiovascular Physiology and Tissue Injury, National Institute on Alcohol Abuse and Alcoholism, National Institutes of Health, Rockville, Maryland.; Basu A; Section on Fibrotic Disorders and.; Zuo BLG; Section on Fibrotic Disorders and.; Zuo MXG; Section on Fibrotic Disorders and.; O'Brien KJ; Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute.; Pommerolle L; Section on Fibrotic Disorders and.; Caro-Rivera LM; Department of Basic Sciences, Ponce Health Sciences University and Ponce Research Institute, Ponce, Puerto Rico.; De Jesus-Rojas W; Department of Basic Sciences, Ponce Health Sciences University and Ponce Research Institute, Ponce, Puerto Rico.; Ramos-Benitez MJ; Department of Basic Sciences, Ponce Health Sciences University and Ponce Research Institute, Ponce, Puerto Rico.; Behan M; Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute.; Introne WJ; Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute.; Frost G; National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, and.; Moaddel R; Biomedical Research Center, National Institute on Aging, National Institutes of Health, Bethesda, Maryland; and.; Gahl WA; Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute.; Malicdan MCV; Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute.; Gochuico BR; Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute.; Cinar R; Section on Fibrotic Disorders and.

Publisher: American Thoracic Society Country of Publication: United States NLM ID: 8917225 Publication Model: Print Cited Medium: Internet ISSN: 1535-4989 (Electronic) Linking ISSN: 10441549 NLM ISO Abbreviation: Am J Respir Cell Mol Biol Subsets: MEDLINE

Sabir MS; NIH Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health Bethesda Maryland USA.; NIH Oxford-Cambridge Scholars Program University of Oxford Oxford UK.; Pollard L; Biochemical Genetics Laboratory Greenwood Genetic Center Greenwood South Carolina USA.; Wolfe L; NIH Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health Bethesda Maryland USA.; Adams DR; NIH Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health Bethesda Maryland USA.; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health Bethesda Maryland USA.; Ciccone C; Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health Bethesda Maryland USA.; Leoyklang P; Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health Bethesda Maryland USA.; Platt FM; Department of Pharmacology University of Oxford Oxford UK.; Huizing M; Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health Bethesda Maryland USA.; Gahl WA; NIH Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health Bethesda Maryland USA.; Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health Bethesda Maryland USA.; Malicdan MCV; NIH Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health Bethesda Maryland USA.; Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health Bethesda Maryland USA.

Publisher: Wiley Country of Publication: United States NLM ID: 101568557 Publication Model: eCollection Cited Medium: Print ISSN: 2192-8304 (Print) Linking ISSN: 21928304 NLM ISO Abbreviation: JIMD Rep Subsets: PubMed not MEDLINE

Lewis CJ; Office of the Clinical Director and Medical Genetics Branch, National Human Genome Research Institute, 10 Center Drive, Bethesda, MD 20892, USA.; Johnston JM; Office of the Clinical Director and Medical Genetics Branch, National Human Genome Research Institute, 10 Center Drive, Bethesda, MD 20892, USA.; D'Souza P; Office of the Clinical Director and Medical Genetics Branch, National Human Genome Research Institute, 10 Center Drive, Bethesda, MD 20892, USA.; Kolstad J; McLean Hospital, Belmont, MA 02478, USA.; Zoppo C; Department of Radiology, University of Massachusetts Chan Medical School, Worcester, MA 01655, USA.; Vardar Z; Department of Radiology, University of Massachusetts Chan Medical School, Worcester, MA 01655, USA.; Kühn AL; Department of Radiology, University of Massachusetts Chan Medical School, Worcester, MA 01655, USA.; Peker A; Koç University Hospital, Istanbul 34010, Türkiye.; Rentiya ZS; Department of Radiation Oncology & Radiology, University of Virginia, Charlottesville, VA 22903, USA.; Yousef MH; Department of Perioperative Medicine, National Institutes of Health Clinical Center, 10 Center Drive, Bethesda, MD 20892, USA.; Gahl WA; Medical Genetics Branch, National Human Genome Research Institute, 10 Center Drive, Bethesda, MD 20892, USA.; Shazeeb MS; Department of Radiology, University of Massachusetts Chan Medical School, Worcester, MA 01655, USA.; Tifft CJ; Office of the Clinical Director and Medical Genetics Branch, National Human Genome Research Institute, 10 Center Drive, Bethesda, MD 20892, USA.; Acosta MT; Office of the Clinical Director and Medical Genetics Branch, National Human Genome Research Institute, 10 Center Drive, Bethesda, MD 20892, USA.

Publisher: MDPI AG Country of Publication: Switzerland NLM ID: 101772310 Publication Model: Electronic Cited Medium: Internet ISSN: 2673-4087 (Electronic) Linking ISSN: 26734087 NLM ISO Abbreviation: NeuroSci Subsets: PubMed not MEDLINE

Cinar R; Section on Fibrotic Disorders.; Basu A; Section on Fibrotic Disorders.; Arif M; Section on Fibrotic Disorders.; Laboratory of Cardiovascular Physiology and Tissue Injury.; Park JK; Laboratory of Physiologic Studies, and.; Zawatsky CN; Section on Fibrotic Disorders.; Zuo BLG; Section on Fibrotic Disorders.; Zuo MXG; Section on Fibrotic Disorders.; O'Brien KJ; Section on Human Biochemical Genetics, Medical Genetics Branch, and.; Behan M; Section on Human Biochemical Genetics, Medical Genetics Branch, and.; Introne W; Section on Human Biochemical Genetics, Medical Genetics Branch, and.; Iyer MR; Section on Medicinal Chemistry, National Institute on Alcohol Abuse and Alcoholism, National Institutes of Health, Rockville, Maryland; and.; Gahl WA; Section on Human Biochemical Genetics, Medical Genetics Branch, and.; Malicdan MCV; National Institutes of Health Undiagnosed Diseases Program and Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.; Gochuico BR; Section on Human Biochemical Genetics, Medical Genetics Branch, and.

Publisher: American Thoracic Society Country of Publication: United States NLM ID: 9421642 Publication Model: Print Cited Medium: Internet ISSN: 1535-4970 (Electronic) Linking ISSN: 1073449X NLM ISO Abbreviation: Am J Respir Crit Care Med Subsets: MEDLINE; In Process

Maynard DM; Section on Human Biochemical Genetics, Medical Genetics Branch, NHGRI, National Institutes of Health, Bethesda, MD, USA.; Gochuico BR; Section on Human Biochemical Genetics, Medical Genetics Branch, NHGRI, National Institutes of Health, Bethesda, MD, USA.; Pri Chen H; Section on Human Biochemical Genetics, Medical Genetics Branch, NHGRI, National Institutes of Health, Bethesda, MD, USA.; Bleck CKE; National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA.; Zerfas PM; Office of Research Services, Office of the Director, National Institutes of Health, Bethesda, MD, USA.; Introne WJ; Section on Human Biochemical Genetics, Medical Genetics Branch, NHGRI, National Institutes of Health, Bethesda, MD, USA.; Gahl WA; Section on Human Biochemical Genetics, Medical Genetics Branch, NHGRI, National Institutes of Health, Bethesda, MD, USA.; Malicdan MCV; Section on Human Biochemical Genetics, Medical Genetics Branch, NHGRI, National Institutes of Health, Bethesda, MD, USA.

Publisher: John Wiley & Sons Ltd Country of Publication: England NLM ID: 0155157 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-3468 (Electronic) Linking ISSN: 00145793 NLM ISO Abbreviation: FEBS Lett Subsets: MEDLINE

Introne, Wendy J ; Phornphutkul, Chanika ; Bernardini, Isa ; McLaughlin, Kevin ; Fitzpatrick, Diana ; Gahl, William A

In Molecular Genetics and Metabolism 2002 77(1):136-142

Kleta, Robert ; Skovby, Flemming ; Christensen, Ernst ; Rosenberg, Thomas ; Gahl, William A ; Anikster, Yair

In Molecular Genetics and Metabolism 2002 76(3):201-206

Gahl, William A ; Brantly, Mark ; Troendle, James ; Avila, Nilo A ; Padua, Antonio ; Montalvo, Carlos ; Cardona, Hilda ; Anton Calis, Karim ; Gochuico, Bernadette

In Molecular Genetics and Metabolism 2002 76(3):234-242