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1 . Academic Journal
De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway
저자
by
Maria Asif
;
Emrah Kaygusuz
;
Marwan Shinawi
;
Anna Nickelsen
;
Tzung-Chien Hsieh
, et al.
소스
HGG Advances, Vol 3, Iss 3, Pp 100111- (2022)
Full Text (Clinical Key)
Full Text (ScienceDirect)
Open Access (DOAJ)
Full Text (ScienceDirect O/A)
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7 . Academic Journal
Congenital Microcephaly: A Debate on Diagnostic Challenges and Etiological Paradigm of the Shift from Isolated/Non-Syndromic to Syndromic Microcephaly
저자
by
Maria Asif
;
Uzma Abdullah
;
Peter Nürnberg
;
Sigrid Tinschert
;
Muhammad Sajid Hussain
.
소스
Cells, Vol 12, Iss 4, p 642 (2023)
Open Access (DOAJ)
Scopus
Web of Science
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7 . Academic Journal
Modifier Genes in Microcephaly: A Report on WDR62, CEP63, RAD50 and PCNT Variants Exacerbating Disease Caused by Biallelic Mutations of ASPM and CENPJ
저자
by
Ehtisham Ul Haq Makhdoom
;
Syeda Seema Waseem
;
Maria Iqbal
;
Uzma Abdullah
;
Ghulam Hussain
, et al.
소스
Genes, Vol 12, Iss 5, p 731 (2021)
Open Access (DOAJ)
Scopus
Web of Science
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7 . Academic Journal
A Postzygotic SMO Mutation Caused the Original Case of Happle–Tinschert Syndrome
저자
by
Martin Zenker
;
Sigrid Tinschert
;
Ilse Wieland
;
Denny Schanze
;
Rudolf Happle
.
소스
Acta Dermato-Venereologica, Vol 98, Iss 5, Pp 534-535 (2018)
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7 . Academic Journal
Meta-Analysis of Genome-Wide Association Studies and Network Analysis-Based Integration with Gene Expression Data Identify New Suggestive Loci and Unravel a Wnt-Centric Network Associated with Dupuytren's Disease.
저자
by
Kerstin Becker
;
Sabine Siegert
;
Mohammad Reza Toliat
;
Juanjiangmeng Du
;
Ramona Casper
, et al.
소스
PLoS ONE, Vol 11, Iss 7, p e0158101 (2016)
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Scopus
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7 . Academic Journal
Double NF1 inactivation affects adrenocortical function in NF1Prx1 mice and a human patient.
저자
by
Karolina Kobus
;
Daniela Hartl
;
Claus Eric Ott
;
Monika Osswald
;
Angela Huebner
, et al.
소스
PLoS ONE, Vol 10, Iss 3, p e0119030 (2015)
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7 . Academic Journal
Multiscale, converging defects of macro-porosity, microstructure and matrix mineralization impact long bone fragility in NF1.
저자
by
Jirko Kühnisch
;
Jong Seto
;
Claudia Lange
;
Susanne Schrof
;
Sabine Stumpp
, et al.
소스
PLoS ONE, Vol 9, Iss 1, p e86115 (2014)
Open Access (DOAJ)
Scopus
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7 . Academic Journal
Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies.
저자
by
Tobias Eisenberger
;
Christine Neuhaus
;
Arif O Khan
;
Christian Decker
;
Markus N Preising
, et al.
소스
PLoS ONE, Vol 8, Iss 11, p e78496 (2013)
Open Access (DOAJ)
Scopus
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7 .
A 24‐generation‐old founder mutation impairs splicing of
RBBP8
in Pakistani families affected with Jawad syndrome
저자
by
Muhammad Jawad Hassan
;
Holger Thiele
;
Mohammad R. Toliat
;
Haseeb Anwar
;
Birgit Budde
, et al.
소스
Clinical Genetics
. 100:486-488
Web of Science
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7 .
Author response for 'A 24‐generation‐old founder mutation impairs splicing of RBBP8 in Pakistani families affected with Jawad syndrome'
저자
by
Birgit Budde
;
Ilknur Sur-Erdem
;
Muhammad Mohsin Ali Khan
;
Mohammad R. Toliat
;
Stefan Höning
, et al.
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