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1 . 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)
Open Access (DOAJ)
Web of Science
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7 . Academic Journal
Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruising
저자
by
Bradley Power
;
Carlos R. Ferreira
;
Dong Chen
;
Wadih M. Zein
;
Kevin J. O’Brien
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-11 (2019)
Open Access (BioMed Central)
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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
Cortical atrophy and hypofibrinogenemia due to FGG and TBCD mutations in a single family: a case report
저자
by
Joshi Stephen
;
Sheela Nampoothiri
;
K. P. Vinayan
;
Dhanya Yesodharan
;
Preetha Remesh
, et al.
소스
BMC Medical Genetics, Vol 19, Iss 1, Pp 1-6 (2018)
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7 . Academic Journal
Cellular and molecular defects in a patient with Hermansky-Pudlak syndrome type 5.
저자
by
Joshi Stephen
;
Tadafumi Yokoyama
;
Nathanial J Tolman
;
Kevin J O'Brien
;
Elena-Raluca Nicoli
, et al.
소스
PLoS ONE, Vol 12, Iss 3, p e0173682 (2017)
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7 .
Bi‐allelic missense variant, p.
Ser35Leu
in
EXOSC1
is associated with pontocerebellar hypoplasia
저자
by
Anju Shukla
;
Rajagopal Kadavigere
;
Puneeth H. Somashekar
;
Parneet Kaur
;
Katta M. Girisha
, et al.
소스
Clin Genet
Open Access (OpenAIRE)
Web of Science
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7 .
Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruising
저자
by
Carlos Ferreira
;
Bradley Power
;
Dong Chen
;
Joshi Stephen
;
Kevin J. O'Brien
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-11 (2019)
Orphanet Journal of Rare Diseases
Open Access (BioMed Central)
Open Access (OpenAIRE)
Web of Science
Scopus
JCR 저널정보
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7 .
Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism
저자
by
Katta M. Girisha
;
Cecilia Rivas
;
Laila Mahmoud
;
Hessa S. Alsaif
;
Abdel G. Elkahloun
, et al.
소스
The American Journal of Human Genetics
. 103:948-967
Full Text (ScienceDirect O/A)
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7 .
Novel truncating mutation in TENM3 in siblings with motor developmental delay, ocular coloboma, oval cornea, without microphthalmia
저자
by
Natasha Radhakrishnan
;
William A. Gahl
;
Dhanya Yesodharan
;
Sheela Nampoothiri
;
Srikar Kuppa
, et al.
소스
American Journal of Medical Genetics Part A
. 176:2930-2933
Web of Science
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7 .
Author response for 'Bi‐allelic missense variant, p. Ser35Leu in EXOSC1 is associated with pontocerebellar hypoplasia'
저자
by
Katta M. Girisha
;
Priyanka Upadhyai
;
Anju Shukla
;
Parneet Kaur
;
Joshi Stephen
, et al.
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