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1 . Academic Journal
Apparent Missense Variant in COL7A1 Causes a Severe Form of Recessive Dystrophic Epidermolysis Bullosa via Effects on Splicing
저자
by
Syed Ashraf Uddin
;
Nicole Cesarato
;
Aytaj Humbatova
;
Axel Schmidt
;
Fazal urRehman
, et al.
소스
Acta Dermato-Venereologica, Vol 100, Iss 16, p adv00275 (2020)
Open Access (DOAJ)
Web of Science
Scopus
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7 .
ATMC8splice variant causes epidermodysplasia verruciformis in a Pakistani family
저자
by
Xing Xiong
;
Syed Ashraf Uddin
;
Sobia Munir
;
Nicole Cesarato
;
Holger Thiele
, et al.
소스
Clinical and Experimental Dermatology
. 48:434-437
Full Text (OUP)
Web of Science
Scopus
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7 .
Assessment of the Genetic Spectrum of Uncombable Hair Syndrome in a Cohort of 107 Individuals
저자
by
F. Buket Basmanav
;
Nicole Cesarato
;
Sheetal Kumar
;
Oleg Borisov
;
Pavlos Kokordelis
, et al.
소스
JAMA dermatology
Full Text (AMA)
Scopus
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7 .
A new de novo heterozygous missense mutation in the desmoplakin gene, causing Naxos and Carvajal disease, associating oligodontia and nail fragility
저자
by
Sokounthie Ou
;
Nicole Cesarato
;
Pierre Mauran
;
Marie‐Paule Gellé
;
Holger Thiele
, et al.
소스
Clinical and Experimental Dermatology
. 47:1424-1426
Full Text (OUP)
Web of Science
Scopus
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7 .
Four hypotrichosis families with mutations in the gene
LSS
presenting with and without neurodevelopmental phenotypes
저자
by
Holger Thiele
;
Mariam Ghughunishvili
;
Maria Wehner
;
Cristina Has
;
Axel Schmidt
, et al.
소스
American Journal of Medical Genetics Part A
. 185:3900-3904
Open Access (OpenAIRE)
Web of Science
Scopus
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7 .
Phänotypische Vielfalt bei Varianten im TP63-Gen
저자
by
Ariane Schmetz
;
Xing Xiong
;
Nicole Cesarato
;
Fitnat Buket Basmanav
;
Petra Gierthmuehlen
, et al.
소스
Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG
. 20(6)
Open Access (OpenAIRE)
Scopus
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7 .
Phenotype diversity associated with TP63 mutations
저자
by
Ariane Schmetz
;
Xing Xiong
;
Nicole Cesarato
;
Fitnat Buket Basmanav
;
Petra Gierthmuehlen
, et al.
소스
Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG
. 20(6)
Open Access (OpenAIRE)
Scopus
JCR 저널정보
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7 .
Additional causal SNRPE mutations in hereditary hypotrichosis simplex
저자
by
Bettina Blaumeiser
;
A Patiño-García
;
X Yu
;
Utz Fischer
;
F Chen
, et al.
소스
British journal of dermatology
Open Access (OpenAIRE)
Scopus
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7 .
Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome
저자
by
Sugirthan Sivalingam
;
Sheetal Kumar
;
Karl Heinz Grzeschik
;
Fabian Hauck
;
Xiujuan Sun
, et al.
소스
Am J Hum Genet
Open Access (OpenAIRE)
요약보기
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7 .
Loss-of-function variants in C3ORF52 result in localized autosomal recessive hypotrichosis
저자
by
Sari Assaf
;
Talia Canter
;
Arti Nanda
;
Kiril Malovitski
;
Eli Sprecher
, et al.
소스
Genet Med
Open Access (OpenAIRE)
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