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3 research outputs found
Recessive Mutations in DOCK6, Encoding the Guanidine Nucleotide Exchange Factor DOCK6, Lead to Abnormal Actin Cytoskeleton Organization and Adams-Oliver Syndrome
Author
Adams
Alkuraya
+44聽more
Asma Sunker
Blasius
Brugnera
C么t茅
C么t茅
C么t茅
Edlund
Eissa Faqeih
Etienne-Manneville
Feng
Fowzan聽S. Alkuraya.
Hall
Hanan聽E. Shamseldin
Hart
Heba Morsy
Hopyan
Ilkovski
Jaffe
Kolluri
Mais Hashem
Miyamoto
Miyamoto
Namekata
Nouran Adly
Papadopoulou
Ranad Shaheen
Ridley
Shaheen
Snape
Southgate
Suchy
Suzuki
Tapon
Tarfa Al-Sheddi
Tcherkezian
Temtamy
Vidali
Watabe-Uchida
Whitley
Wu
Yang
Yarbrough
Zehnaly
Zhang
Publication venue
'Elsevier BV'
Publication date
Field of study
No full text
Crossref
POC1A Truncation Mutation Causes a Ciliopathy in Humans Characterized by Primordial Dwarfism
Author
Al-Dosari
Al-Dosari
+41聽more
Aldahmesh
Asma Sunker
Bicknell
Bongers
Cho
Cizmecioglu
Delaval
Eggermann
Eissa Faqeih
Fowzan聽S. Alkuraya
Futwan Al-Mohanna
Griffith
Hall
Hanan聽E. Shamseldin
He
Kalay
Kaler
Karlberg
Keller
Keller
Klingseisen
Majewski
Martinez-Campos
Miyoshi
Mohammed聽S. Al-Dosari
Muneera Al-Husain
Muneera聽J. Alshammari
Nagy
Nigg
Nouran Adly
Pearson
Qvist
Ramil聽R. Noche
Ranad Shaheen
Rauch
Sean聽G. Megason
Shaheen
Shaheen
Tarfa Al-Sheddi
Tobin
Willems
Publication venue
'Elsevier BV'
Publication date
Field of study
No full text
Crossref
Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies
Author
Abdulelah AlIssa
Abeer E. AlMostafa
+53聽more
AF Wright
Ali Alasmari
Arif O. Khan
Asma Sunker
Banan Al-Younes
Bandar Al-Saud
Dorota Monies
DT Hartong
Emad B. Abboud
Ewa Naim
F Coppieters
F Coppieters
Firdous M. Abdulwahab
Fowzan S. Alkuraya
FS Alkuraya
FS Alkuraya
Ghada M. H. Abdel-Salam
Hadeel Alsharif
Hamad Al-Zaidan
Hisham Alkuraya
I Berezniuk
I Perrault
J Halbritter
J Hoover-Fong
K Neveling
KA Aldinger
L Abu-Safieh
LA Kelley
M Murray
Mais Hashem
ME Shanks
Mohamed Abouelhoda
Mohammed A. Aldahmesh
Mohammed Alowain
N Pathak
Nada Altassan
Niema Ibrahim
Nisha Patel
Olga Buzovetsky
Ranad Shaheen
S Richards
Saleh Al-mohsen
Sawsan R. Nowilaty
Selwa A. F. Al-Hazzaa
Shamsa Anazi
SP Daiger
T Eisenberger
W Berger
X Wang
XF Huang
Y Hou
Y Suzuki
Yong Xiong
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref