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1 . Academic Journal
P334: Ciliary analysis defines pathogenicity of novel WDR19 bi-allelic variants in patient with cranioectodermal dysplasia and mosaic chromosome 9p deletion
저자
by
Daniah Albokhari
;
Meral Gunay-Aygun
;
Julie Hoover-Fong
;
May Christine Malicdan
.
소스
Genetics in Medicine Open, Vol 2, Iss , Pp 101228- (2024)
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6 . Academic Journal
cDNA sequencing increases the molecular diagnostic yield in Chediak-Higashi syndrome
저자
by
Chulaluk Kuptanon
;
Marie Morimoto
;
Elena-Raluca Nicoli
;
Joshi Stephen
;
David S. Yarnell
, et al.
소스
Frontiers in Genetics, Vol 14 (2023)
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7 . Academic Journal
Consensus clinical management guidelines for Alström syndrome
저자
by
Natascia Tahani
;
Pietro Maffei
;
Hélène Dollfus
;
Richard Paisey
;
Diana Valverde
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-22 (2020)
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7 . Academic Journal
Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy
저자
by
Holger Hengel
;
Célia Bosso-Lefèvre
;
George Grady
;
Emmanuelle Szenker-Ravi
;
Hankun Li
, et al.
소스
Nature Communications, Vol 11, Iss 1, Pp 1-16 (2020)
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7 . Academic Journal
High‐dose hydroxocobalamin achieves biochemical correction and improvement of neuropsychiatric deficits in adults with late onset cobalamin C deficiency
저자
by
Tomoyasu Higashimoto
;
Alexander Y. Kim
;
Jessica T. Ogawa
;
Jennifer L. Sloan
;
Mohammed A. Almuqbil
, et al.
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JIMD Reports, Vol 51, Iss 1, Pp 17-24 (2020)
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7 . Academic Journal
An Atypical Presentation of Pyridoxine-Dependent Epilepsy Diagnosed with Whole Exome Sequencing and Treated with Lysine Restriction and Supplementation with Arginine and Pyridoxine
저자
by
Jiyoung Kim
;
Angela Pipitone Dempsey
;
Sun Young Kim
;
Meral Gunay-Aygun
;
Hilary J. Vernon
.
소스
Case Reports in Genetics, Vol 2022 (2022)
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7 . Academic Journal
Spleen and Liver Volumetrics as Surrogate Markers of Hepatic Venous Pressure Gradient in Patients With Noncirrhotic Portal Hypertension
저자
by
Ohad Etzion
;
Varun Takyar
;
Victor Novack
;
Ahmed M. Gharib
;
Raissa Canales
, et al.
소스
Hepatology Communications, Vol 2, Iss 8, Pp 923-932 (2018)
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7 . Academic Journal
Primary Cilium-Mediated Retinal Pigment Epithelium Maturation Is Disrupted in Ciliopathy Patient Cells
저자
by
Helen Louise May-Simera
;
Qin Wan
;
Balendu Shekhar Jha
;
Juliet Hartford
;
Vladimir Khristov
, et al.
소스
Cell Reports, Vol 22, Iss 1, Pp 189-205 (2018)
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7 . Academic Journal
In Vitro Modeling Using Ciliopathy-Patient-Derived Cells Reveals Distinct Cilia Dysfunctions Caused by CEP290 Mutations
저자
by
Hiroko Shimada
;
Quanlong Lu
;
Christine Insinna-Kettenhofen
;
Kunio Nagashima
;
Milton A. English
, et al.
소스
Cell Reports, Vol 20, Iss 2, Pp 384-396 (2017)
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7 .
Systematic analysis of physical examination characteristics of 94 individuals with Joubert syndrome: Keys to suspecting the diagnosis
저자
by
RaeLynn Forsyth
;
Melissa A. Parisi
;
Burak Altintas
;
May Christine Malicdan
;
Thierry Vilboux
, et al.
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Am J Med Genet C Semin Med Genet
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