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1 . Academic Journal
A familial PLCB4 mutation causing auriculocondylar syndrome 2 with variable severity
저자
by
Nabil, Amira
;
El Shafei, Sahar
;
El Shakankiri, Nihal M.
;
Habib, Ahmed
;
Morsy, Heba
, et al.
소스
In
European Journal of Medical Genetics
June 2020 63(6)
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7 . Academic Journal
A de novo TBX3 mutation presenting as dorsalization of the little fingers: A forme fruste phenotype of ulnar-mammary syndrome
저자
by
Al-Qattan, Mohammad M.
;
Maddirevula, Sateesh
;
Alkuraya, Fowzan S.
.
소스
In
European Journal of Medical Genetics
January 2020 63(1)
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5 . Academic Journal
The landscape of early infantile epileptic encephalopathy in a consanguineous population
저자
by
Nashabat, Marwan
;
Al Qahtani, Xena S.
;
Almakdob, Salwa
;
Altwaijri, Waleed
;
Ba-Armah, Duaa M.
, et al.
소스
In
Seizure: European Journal of Epilepsy
July 2019 69:154-172
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7 . Academic Journal
Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome
저자
by
Hannah, Michael G.
;
Bugiardini, Enrico
;
Bertini, Enrico
;
Kriouile, Yamna
;
El-Khorassani, Mohamed
, et al.
소스
In
The American Journal of Human Genetics
4 January 2024 111(1):200-210
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7 . Academic Journal
A founder variant expands the phenotype of WNT7B‐related PDAC syndrome.
저자
by
AlAbdi, Lama
;
Rahbeeni, Zuhair
;
Maddirevula, Sateesh
;
Helaby, Rana
;
Abdulwahab, Firdous
, et al.
소스
Clinical Genetics
. Feb2024, p1. 6p. 4 Illustrations, 1 Chart.
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7 . Academic Journal
Mining local exome and HLA data to characterize pharmacogenetic variants in Saudi Arabia.
저자
by
Abouelhoda, Mohamed
;
Almuqati, Noura
;
Abogosh, Ahmed
;
Alfraih, Feras
;
Maddirevula, Sateesh
, et al.
소스
Human Genetics
. Feb2024, Vol. 143 Issue 2, p125-136. 12p.
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7 . Academic Journal
The utility of gene sequencing in identifying an underlying genetic disorder in prenatally suspected lower urinary tract obstruction.
저자
by
Brar, Bobby K.
;
Blakemore, Karin
;
Hertenstein, Christine
;
Miller, Jena L.
;
Miller, Kristen A.
, et al.
소스
Prenatal Diagnosis; Feb2024, Vol. 44 Issue 2, p196-204, 9p
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7 . Academic Journal
A de novo mutation in FMR1 in a patient with intellectual disability
저자
by
Maddirevula, Sateesh
;
Alsaif, Hessa S.
;
Ibrahim, Niema
;
Alkuraya, Fowzan S.
.
소스
In
European Journal of Medical Genetics
March 2020 63(3)
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6 . Academic Journal
Primate-specific ZNF808 is essential for pancreatic development in humans
저자
by
De Franco, Elisa
;
Owens, Nick D. L.
;
Montaser, Hossam
;
Wakeling, Matthew N.
;
Saarimäki-Vire, Jonna
, et al.
소스
Nature Genetics
. 55(12):2075-2081
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7 . Academic Journal
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
저자
by
AlAbdi, Lama
;
Maddirevula, Sateesh
;
Shamseldin, Hanan E.
;
Khouj, Ebtissal
;
Helaby, Rana
, et al.
소스
Nature Communications; 8/29/2023, Vol. 14 Issue 1, p1-19, 19p
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