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1 . 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.
Web of Science
Scopus
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7 . Academic Journal
Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases.
저자
by
AlAbdi, Lama
;
Shamseldin, Hanan E.
;
Khouj, Ebtissal
;
Helaby, Rana
;
Aljamal, Bayan
, et al.
소스
Genome Medicine
. 12/14/2023, Vol. 15 Issue 1, p1-16. 16p.
Open Access (BioMed Central)
Web of Science
Scopus
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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
Web of Science
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7 . Academic Journal
Homozygous truncating variant in MAN2A2 causes a novel congenital disorder of glycosylation with neurological involvement.
저자
by
Mahajan, Sonal
;
Ng, Bobby George
;
AlAbdi, Lama
;
Earnest, Paul Daniel James
;
Sosicka, Paulina
, et al.
소스
Journal of Medical Genetics; Jul2023, Vol. 60 Issue 7, p627-635, 9p
Full Text (BMJ Journals)
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7 . Academic Journal
PMEL is mutated in oculocutaneous albinism.
저자
by
AlAbdi, Lama
;
Alshammari, Muneera
;
Helaby, Rana
;
Khan, Arif O.
;
Alkuraya, Fowzan S.
.
소스
Human Genetics
. Jan2023, Vol. 142 Issue 1, p139-144. 6p.
Web of Science
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7 . Periodical
Homozygous truncating variant in MAN2A2causes a novel congenital disorder of glycosylation with neurological involvement
저자
by
Mahajan, Sonal
;
Ng, Bobby George
;
AlAbdi, Lama
;
Earnest, Paul Daniel James
;
Sosicka, Paulina
, et al.
소스
Journal of Medical Genetics (JMG); 2023, Vol. 60 Issue: 7 p627-635, 9p
Full Text (BMJ Journals)
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7 . Periodical
Residual risk for additional recessive diseases in consanguineous couples
저자
by
AlAbdi, Lama
;
Alrashseed, Shatha
;
Alsulaiman, Ahood
;
Helaby, Rana
;
Imtiaz, Faiqa
, et al.
소스
Genetics in Medicine; December 2021, Vol. 23 Issue: 12 p2448-2454, 7p
Full Text (ScienceDirect)
Full Text (ScienceDirect O/A)
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7 . Academic Journal
Genetic testing results of children suspected to have Stickler syndrome type collagenopathy after ocular examination.
저자
by
Khan, Arif O.
;
AlAbdi, Lama
;
Patel, Nisha
;
Helaby, Rana
;
Hashem, Mais
, et al.
소스
Molecular Genetics & Genomic Medicine
. May2021, Vol. 9 Issue 5, p1-7. 7p.
Open Access (Wiley)
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Scopus
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7 . Academic Journal
Biallelic variants in the small optic lobe calpain CAPN15 are associated with congenital eye anomalies, deafness and other neurodevelopmental deficits.
저자
by
Zha, Congyao
;
Farah, Carole A
;
Holt, Richard J
;
Ceroni, Fabiola
;
Al-Abdi, Lama
, et al.
소스
Human Molecular Genetics; 9/20/2020, Vol. 29 Issue 18, p3054-3063, 10p
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7 . Academic Journal
Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics.
저자
by
Maddirevula, Sateesh
;
Kuwahara, Hiroyuki
;
Ewida, Nour
;
Shamseldin, Hanan E.
;
Patel, Nisha
, et al.
소스
Genome Biology; 6/17/2020, Vol. 21 Issue 1, p1-21, 21p
Open Access (BioMed Central)
Scopus
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