Zobrazeno 1 - 10
of 83
pro vyhledávání: '"Conlin LK"'
Autor:
Bull, Laura, Shah, S, Conlin, LK, Gomez, L, Aagenaes, Ø, Eiklid, K, Knisely, AS, Mennuti, MT, Matthews, RP, Spinner, NB, Bull, LN
Publikováno v:
Bull, Laura; Shah, S; Conlin, LK; Gomez, L; Aagenaes, Ø; Eiklid, K; et al.(2013). CCBE1 Mutation in Two Siblings, One Manifesting Lymphedema-Cholestasis Syndrome, and the Other, Fetal Hydrops. UC San Francisco: Retrieved from: http://www.escholarship.org/uc/item/37k377bz
Background:Lymphedema-cholestasis syndrome (LCS; Aagenaes syndrome) is a rare autosomal recessive disorder, characterized by 1) neonatal intrahepatic cholestasis, often lessening and becoming intermittent with age, and 2) severe chronic lymphedema, m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_______325::712d56d5aef57821861f6037adc8a492
http://www.escholarship.org/uc/item/37k377bz
http://www.escholarship.org/uc/item/37k377bz
Autor:
Salzano, E, Raible, SE, Kaur, M, Wilkens, A, Sperti, G, Tilton, RK, Bettini, LR, Rocca, A, Cocchi, G, Selicorni, A, Conlin, LK, McEldrew, D, Gupta, R, Thakur, S, Izumi, K, Krantz, ID
Publikováno v:
American Journal of Medical Genetics. Part A; Dec2018, Vol. 176 Issue 12, p2575-2586, 12p
Akademický článek
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Autor:
Luo M; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Wong D; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Zelley K; Division of Oncology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Wu J; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Schubert J; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Denenberg EH; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Fanning EA; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Chen J; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Gallo D; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Golenberg N; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Patel M; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Conlin LK; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Maxwell KN; Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Corporal Michael J. Crescenz Veterans Affairs Medical Center, Philadelphia, PA, USA., Wertheim GB; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Surrey LF; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Zhong Y; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Brodeur GM; Division of Oncology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., MacFarland SP; Division of Oncology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Li MM; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Division of Oncology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Publikováno v:
Journal of the National Cancer Institute [J Natl Cancer Inst] 2024 Aug 01; Vol. 116 (8), pp. 1356-1365.
Autor:
Schmidt RJ; Children's Hospital Los Angeles, Keck School of Medicine of USC, Los Angeles, CA. Electronic address: rschmidt@chla.usc.edu., Steeves M; Color Health, Burlingame, CA., Bayrak-Toydemir P; Department of Pathology, University of Utah Molecular Genetics and Genomics, ARUP Laboratories, Salt Lake City, UT., Benson KA; School of Pharmacy and Biomolecular Sciences, Royal College of Surgeons in Ireland, Ireland., Coe BP; Department of Pathology & Lab Medicine, BC Children's & BC Women's Hospitals, Vancouver, Canada., Conlin LK; Department of Pathology and Laboratory Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA., Ganapathi M; Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, NY., Garcia J; Invitae, San Francisco, CA., Gollob MH; Inherited Arrhythmia and Cardiomyopathy Program, Division of Cardiology, Toronto General Hospital and Department of Physiology, University of Toronto, Toronto, Ontario, Canada., Jobanputra V; New York Genome Center, New York, NY; Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, NY., Luo M; Department of Pathology and Laboratory Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA., Ma D; DNA diagnostic lab, Department of Genetics, School of Medicine, Yale University, New Haven, CT., Maston G; Quest Diagnostics, Inc., Hillsboro, OR., McGoldrick K; Ambry Genetics, Aliso Viejo, CA., Palculict TB; GeneDx, Gaithersburg, MD., Pesaran T; Ambry Genetics, Aliso Viejo, CA., Pollin TI; University of Maryland School of Medicine, Baltimore, MD., Qian E; Department of Genetics, Yale University School of Medicine, New Haven, CT., Rehm HL; Center for Genomics Medicine, Massachusetts General Hospital, Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA., Riggs ER; Geisinger Autism & Developmental Medicine Institute, Lewisburg, PA., Schilit SLP; Mass General Brigham, Brigham and Woman's Hospital, Harvard Medical School, Boston, MA., Sergouniotis PI; Division of Evolution, Infection and Genomics, University of Manchester, Manchester, United Kingdom., Tvrdik T; Department of Pathology and Laboratory Medicine, Emory University School of Medicine, Atlanta, GA., Watkins N; Department of Pathology and Laboratory Medicine, Sinai Health System, Toronto, Ontario, Canada Department of Molecular Genetics, University of Toronto, Toronto, Canada., Zec L; Natera, Inc., Austin, TX., Zhang W; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH., Lebo MS; Mass General Brigham, Brigham and Woman's Hospital, Harvard Medical School, Broad Institute of MIT and Harvard, Cambridge, MA. Electronic address: mlebo@bwh.harvard.edu.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2024 Mar; Vol. 26 (3), pp. 101036. Date of Electronic Publication: 2023 Dec 03.
Autor:
Hayeck TJ; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Li Y; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Mosbruger TL; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Bradfield JP; Quantinuum Research LLC, Philadelphia, PA, USA., Gleason AG; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Damianos G; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Shaw GT; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Duke JL; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Conlin LK; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Turner TN; Department of Genetics, Washington University School of Medicine, St. Louis, MO 63110, USA., Fernández-Viña MA; Department of Pathology, Stanford University School of Medicine, Palo Alto, CA, USA.; Histocompatibility and Immunogenetics Laboratory, Stanford Blood Center, Palo Alto, CA, USA., Sarmady M; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Monos DS; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Publikováno v:
Genome biology and evolution [Genome Biol Evol] 2024 Feb 01; Vol. 16 (2).
Autor:
Dharmadhikari AV, Abad MA, Khan S, Maroofian R, Sands TT, Ullah F, Samejima I, Wear MA, Moore KE, Kondakova E, Mitina N, Schaub T, Lee GK, Umandap CH, Berger SM, Iglesias AD, Popp B, Jamra RA, Gabriel H, Rentas S, Rippert AL, Izumi K, Conlin LK, Koboldt DC, Mosher TM, Hickey SE, Albert DVF, Norwood H, Lewanda AF, Dai H, Liu P, Mitani T, Marafi D, Pehlivan D, Posey JE, Lippa N, Vena N, Heinzen EL, Goldstein DB, Mignot C, de Sainte Agathe JM, Al-Sannaa NA, Zamani M, Sadeghian S, Azizimalamiri R, Seifia T, Zaki MS, Abdel-Salam GMH, Abdel-Hamid M, Alabdi L, Alkuraya FS, Dawoud H, Lofty A, Bauer P, Zifarelli G, Afzal E, Zafar F, Efthymiou S, Gossett D, Towne MC, Yeneabat R, Wontakal SN, Aggarwal VS, Rosenfeld JA, Tarabykin V, Ohta S, Lupski JR, Houlden H, Earnshaw WC, Davis EE, Jeyaprakash AA, Liao J
Publikováno v:
MedRxiv : the preprint server for health sciences [medRxiv] 2024 Jan 09. Date of Electronic Publication: 2024 Jan 09.
Autor:
Rehm HL; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA; Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA; Pathology, Harvard Medical School, Boston, MA. Electronic address: hrehm@mgh.harvard.edu., Alaimo JT; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO; Department of Pediatrics, School of Medicine, University of Missouri, Kansas City, MO; Genomic Medicine Center, Children's Mercy Hospital, Kansas City, MO., Aradhya S; Invitae, San Francisco, CA; Department of Pathology, Stanford University School of Medicine, Palo Alto, CA., Bayrak-Toydemir P; ARUP Laboratories, Salt Lake City, UT; Department of Pathology, University of Utah School of Medicine, Salt Lake City, UT., Best H; ARUP Laboratories, Salt Lake City, UT; Department of Pathology, University of Utah School of Medicine, Salt Lake City, UT., Brandon R; GeneDx, LLC, Gaithersburg, MD., Buchan JG; Genetics Division, Laboratory Medicine and Pathology, University of Washington, Seattle, WA., Chao EC; Ambry Genetics, Aliso Viejo, CA., Chen E; Invitae, San Francisco, CA., Clifford J; Ambry Genetics, Aliso Viejo, CA., Cohen ASA; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO; Department of Pediatrics, School of Medicine, University of Missouri, Kansas City, MO; Genomic Medicine Center, Children's Mercy Hospital, Kansas City, MO., Conlin LK; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA; Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA., Das S; Human Genetics, University of Chicago, Chicago, IL., Davis KW; Variantyx, Framingham, MA., Del Gaudio D; Human Genetics, University of Chicago, Chicago, IL., Del Viso F; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO., DiVincenzo C; Quest Diagnostics, Marlborough, MA., Eisenberg M; Women's Health and Genetics, Labcorp, Research Triangle Park, NC., Guidugli L; Rady Children's Institute for Genomic Medicine, San Diego, CA., Hammer MB; Rady Children's Institute for Genomic Medicine, San Diego, CA., Harrison SM; Ambry Genetics, Aliso Viejo, CA., Hatchell KE; Invitae, San Francisco, CA., Dyer LH; GeneDx, LLC, Gaithersburg, MD., Hoang LU; Ambry Genetics, Aliso Viejo, CA., Holt JM; HudsonAlpha Clinical Services Lab, LLC, Huntsville, AL., Jobanputra V; Molecular Diagnostics, New York Genome Center, New York, NY; Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, NY., Karbassi ID; Quest Diagnostics, Marlborough, MA., Kearney HM; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN., Kelly MA; HudsonAlpha Clinical Services Lab, LLC, Huntsville, AL., Kelly JM; HudsonAlpha Clinical Services Lab, LLC, Huntsville, AL., Kluge ML; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN., Komala T; Ambry Genetics, Aliso Viejo, CA., Kruszka P; GeneDx, LLC, Gaithersburg, MD., Lau L; Division of Genome Diagnostics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, ON, Canada., Lebo MS; Pathology, Harvard Medical School, Boston, MA; Laboratory for Molecular Medicine, Mass General Brigham, Cambridge, MA., Marshall CR; Division of Genome Diagnostics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, ON, Canada; Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada., McKnight D; Invitae, San Francisco, CA., McWalter K; GeneDx, LLC, Gaithersburg, MD., Meng Y; Fulgent Genetics, Temple City, CA., Nagan N; Women's Health and Genetics, Labcorp, Westborough, MA., Neckelmann CS; Fulgent Genetics, Temple City, CA., Neerman N; Variantyx, Framingham, MA., Niu Z; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN., Paolillo VK; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO., Paolucci SA; Genetics Division, Laboratory Medicine and Pathology, University of Washington, Seattle, WA., Perry D; Illumina, Inc, San Diego, CA., Pesaran T; Ambry Genetics, Aliso Viejo, CA., Radtke K; Ambry Genetics, Aliso Viejo, CA., Rasmussen KJ; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN., Retterer K; GeneDx, LLC, Gaithersburg, MD., Saunders CJ; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO; Genomic Medicine Center, Children's Mercy Hospital, Kansas City, MO; Department of Pediatrics and Pathology, School of Medicine, University of Missouri, Kansas City, MO., Spiteri E; Department of Pathology, Stanford Medicine, Palo Alto, CA., Stanley C; Variantyx, Framingham, MA., Szuto A; Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada., Taft RJ; Illumina, Inc, San Diego, CA., Thiffault I; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO; Department of Pediatrics, School of Medicine, University of Missouri, Kansas City, MO; Genomic Medicine Center, Children's Mercy Hospital, Kansas City, MO., Thomas BC; Illumina, Inc, San Diego, CA., Thomas-Wilson A; Molecular Diagnostics, New York Genome Center, New York, NY., Thorpe E; Illumina, Inc, San Diego, CA., Tidwell TJ; ARUP Laboratories, Salt Lake City, UT., Towne MC; Ambry Genetics, Aliso Viejo, CA., Zouk H; Pathology, Harvard Medical School, Boston, MA; Laboratory for Molecular Medicine, Mass General Brigham, Cambridge, MA.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2023 Dec; Vol. 25 (12), pp. 100947. Date of Electronic Publication: 2023 Jul 30.
Autor:
Yamamoto N; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA; Roberts Individualized Medical Genetics Center (RIMGC), Children's Hospital of Philadelphia, Philadelphia, PA; Division of Otolaryngology, Department of Surgical Specialties, National Center for Children's Health and Development, Tokyo, Japan; Division of Hearing and Balance Research, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo, Japan., Balciuniene J; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA; PerkinElmer Genomics, Pittsburgh, PA., Hartman T; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA; Roberts Individualized Medical Genetics Center (RIMGC), Children's Hospital of Philadelphia, Philadelphia, PA., Diaz-Miranda MA; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA., Bedoukian E; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA; Roberts Individualized Medical Genetics Center (RIMGC), Children's Hospital of Philadelphia, Philadelphia, PA., Devkota B; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA; Roberts Individualized Medical Genetics Center (RIMGC), Children's Hospital of Philadelphia, Philadelphia, PA., Lawrence A; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA; Roberts Individualized Medical Genetics Center (RIMGC), Children's Hospital of Philadelphia, Philadelphia, PA., Golenberg N; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA., Patel M; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA., Tare A; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA., Chen R; Department of Pathology and Laboratory Medicine, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA., Schindler E; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA; Roberts Individualized Medical Genetics Center (RIMGC), Children's Hospital of Philadelphia, Philadelphia, PA., Choi J; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA; Roberts Individualized Medical Genetics Center (RIMGC), Children's Hospital of Philadelphia, Philadelphia, PA., Kaur M; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA; Roberts Individualized Medical Genetics Center (RIMGC), Children's Hospital of Philadelphia, Philadelphia, PA., Charles S; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA., Chen J; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA., Fanning EA; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA., Dechene E; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA., Cao K; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA., Jill MR; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA; Department of Pathology and Laboratory Medicine, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA., Rajagopalan R; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA; Department of Pathology and Laboratory Medicine, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA., Bayram Y; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA; Department of Pathology and Laboratory Medicine, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA., Dulik MC; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA; Department of Pathology and Laboratory Medicine, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA., Germiller J; Division of Pediatric Otolaryngology, Children's Hospital of Philadelphia, Philadelphia, PA; Department of Otorhinolaryngology, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA., Conlin LK; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA; Department of Pathology and Laboratory Medicine, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA., Krantz ID; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA; Roberts Individualized Medical Genetics Center (RIMGC), Children's Hospital of Philadelphia, Philadelphia, PA; Department of Pediatrics, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA., Luo M; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA; Department of Pathology and Laboratory Medicine, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA. Electronic address: luom@email.chop.edu.
Publikováno v:
The Journal of pediatrics [J Pediatr] 2023 Nov; Vol. 262, pp. 113620. Date of Electronic Publication: 2023 Jul 19.
Autor:
Izumi K; Divisions of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Departments of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Ganetzky RD; Divisions of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Departments of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Departments of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Wertheim GBW; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Departments of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Skraban CM; Divisions of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Departments of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Bedoukian EC; Divisions of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Wilkens A; Divisions of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Fincher C; Divisions of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Thomas NH; Department of Child and Adolescent Psychiatry and Behavioral Sciences, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Departments of Psychiatry, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Ginsberg JP; Departments of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Divisions of Oncology, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Rheingold SR; Departments of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Divisions of Oncology, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Conlin LK; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Departments of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Deardorff MA; Divisions of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Departments of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Publikováno v:
Molecular syndromology [Mol Syndromol] 2023 Aug; Vol. 14 (4), pp. 303-309. Date of Electronic Publication: 2023 May 05.