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1 . Academic Journal
P143: Clinical investigation of bleeding diatheses in patients with Hermansky-Pudlak syndrome
저자
by
Christopher Song
;
Wendy Introne
;
Kevin O'Brien
;
Srikar Kuppa
;
Thomas Markello
, et al.
소스
Genetics in Medicine Open, Vol 2, Iss , Pp 101040- (2024)
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7 . 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
P848: Novel structural variant in PDGFB-associated with ectopic intracerebral calcifications
저자
by
David D'Onofrio
;
Andrea Cohen
;
Meredith Gillis
;
Seth Berger
;
May Christine Malicdan
, et al.
소스
Genetics in Medicine Open, Vol 2, Iss , Pp 101759- (2024)
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7 . Academic Journal
Generation and characterization of four Chediak-Higashi Syndrome (CHS) induced pluripotent stem cell (iPSC) lines
저자
by
Jenny Serra-Vinardell
;
Maxwell B. Sandler
;
Evgenia Pak
;
Wei Zheng
;
Amalia Dutra
, et al.
소스
Stem Cell Research, Vol 47, Iss , Pp 101883- (2020)
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7 . Academic Journal
Deficiency in the endocytic adaptor proteins PHETA1/2 impairs renal and craniofacial development
저자
by
Kristin M. Ates
;
Tong Wang
;
Trevor Moreland
;
Rajalakshmi Veeranan-Karmegam
;
Manxiu Ma
, et al.
소스
Disease Models & Mechanisms, Vol 13, Iss 5 (2020)
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7 . Academic Journal
Muscle Weakness and Fibrosis Due to Cell Autonomous and Non-cell Autonomous Events in Collagen VI Deficient Congenital Muscular Dystrophy
저자
by
Satoru Noguchi
;
Megumu Ogawa
;
May Christine Malicdan
;
Ikuya Nonaka
;
Ichizo Nishino
.
소스
EBioMedicine, Vol 15, Iss C, Pp 193-202 (2017)
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7 . Academic Journal
Allele-specific Gene Silencing of Mutant mRNA Restores Cellular Function in Ullrich Congenital Muscular Dystrophy Fibroblasts
저자
by
Satoru Noguchi
;
Megumu Ogawa
;
Genri Kawahara
;
May Christine Malicdan
;
Ichizo Nishino
.
소스
Molecular Therapy: Nucleic Acids, Vol 3, Iss C (2014)
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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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7 .
A concerted action to explore therapies for free sialic acid storage disease
저자
by
Marjan Huizing
;
Steven U. Walkley
;
Melissa Wasserstein
;
Christine Anne-Longin
;
Raymond Y. Wang
, et al.
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Molecular Genetics and Metabolism
. 138:107160
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