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21 .
The genetic landscape of familial congenital hydrocephalus
저자
by
Badi S. Albaqawi
;
Sateesh Madirevula
;
Firdous Abdulwahab
;
Eissa Faqeih
;
Wesam Kurdi
, et al.
소스
Annals of Neurology
. 81:890-897
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27 .
Bialleleic PKD1 mutations underlie early-onset autosomal dominant polycystic kidney disease in Saudi Arabian families
저자
by
Mohamed H Al-Hamed
;
John A. Sayer
;
Wafa Ali
;
Naderah Altaleb
;
Faiqa Imtiaz
, et al.
소스
Pediatric nephrology (Berlin, Germany)
. 34(9)
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27 .
Renal tubular dysgenesis: antenatal ultrasound scanning and molecular investigations in a Saudi Arabian family
저자
by
Maha Tulbah
;
Wesam Kurdi
;
John A. Sayer
;
Mohamed H Al-Hamed
;
Nada Alsahan
, et al.
소스
Clinical Kidney Journal
Open Access (OpenAIRE)
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27 .
Genetic spectrum of Saudi Arabian patients with antenatal cystic kidney disease and ciliopathy phenotypes using a targeted renal gene panel
저자
by
Mohamed Abouelhoda
;
John A. Sayer
;
Maha Alnemer
;
Dorota Monies
;
Maha Tulbah
, et al.
소스
Journal of Medical Genetics
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27 .
Obstetric outcomes in reduced and non-reduced twin pregnancies. A single hospital experience
저자
by
UmmKulthoum E. AlShelaly
;
Wesam Kurdi
;
Noor H. Al-Mousa
.
소스
Saudi Medical Journal, Vol 36, Iss 9, Pp 1122-1125 (2015)
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25 .
Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population
저자
by
Malak Alghamdi
;
Susan Alhumaidi
;
Saeed Altala
;
Mirna Assoum
;
Aziza Chedrawi
, et al.
소스
The American Journal of Human Genetics
. 105:879
Open Access (OpenAIRE)
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27 .
The many faces of peroxisomal disorders: Lessons from a large Arab cohort
저자
by
Nawal Makhseed
;
Majid Alfadhel
;
Hanan E. Shamseldin
;
Nisha Patel
;
Eissa Faqeih
, et al.
소스
Clinical genetics
. 95(2)
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27 .
Autozygome and high throughput confirmation of disease genes candidacy
저자
by
Seham Alameer
;
Mariam Almureikhi
;
Zuhair Rahbeeni
;
Mohamed Abouelhoda
;
Ameera Balobaid
, et al.
소스
Genetics in Medicine
Full Text (ScienceDirect)
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27 .
Corrigendum: Autozygosity reveals recessive mutations and novel mechanisms in dominant genes: implications in variant interpretation
저자
by
Mais Hashem
;
Ewa Goljan
;
Mohammed H. Alanazy
;
Eissa Faqeih
;
Fowzan S. Alkuraya
, et al.
소스
Genetics in medicine : official journal of the American College of Medical Genetics
. 20(3)
Full Text (ScienceDirect)
Open Access (OpenAIRE)
Scopus
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27 .
Correction to: Expanding the genetic heterogeneity of intellectual disability
저자
by
Ahmad Alshaer
;
Ayman W. El-Hattab
;
Hesham Aldhalaan
;
Firdous Abdulwahab
;
Mustafa A. Salih
, et al.
소스
Human genetics
. 137(1)
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