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1 . Academic Journal
The clinical and genetic landscape of developmental and epileptic encephalopathies in Egyptian children.
저자
by
Elkhateeb, Nour
;
Issa, Mahmoud Y.
;
Elbendary, Hasnaa M.
;
Elnaggar, Walaa
;
Ramadan, Areef
, et al.
소스
Clinical Genetics
. May2024, Vol. 105 Issue 5, p510-522. 13p.
Web of Science
Scopus
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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
Full Text (ScienceDirect)
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7 . Academic Journal
Biallelic missense variants in COG3 cause a congenital disorder of glycosylation with impairment of retrograde vesicular trafficking.
저자
by
Duan, Ruizhi
;
Marafi, Dana
;
Xia, Zhi‐Jie
;
Ng, Bobby G.
;
Maroofian, Reza
, et al.
소스
Journal of Inherited Metabolic Disease; Nov2023, Vol. 46 Issue 6, p1195-1205, 11p
Web of Science
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7 . Academic Journal
Novel LSS variants in alopecia and intellectual disability syndrome: New case report and clinical spectrum of LSS‐related rare disease traits.
저자
by
Elbendary, Hasnaa M.
;
Marafi, Dana
;
Saad, Ahmed K.
;
Elhossini, Rasha
;
Duan, Ruizhi
, et al.
소스
Clinical Genetics
. Sep2023, Vol. 104 Issue 3, p344-349. 6p.
Web of Science
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7 . Academic Journal
Clinical and molecular spectrum of a large Egyptian cohort with ALS2‐related disorders of infantile‐onset of clinical continuum IAHSP/JPLS.
저자
by
Zaki, Maha S.
;
Sharaf‐Eldin, Wessam E.
;
Rafat, Karima
;
Elbendary, Hasnaa M.
;
Kamel, Mona
, et al.
소스
Clinical Genetics
. Aug2023, Vol. 104 Issue 2, p238-244. 7p.
Web of Science
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7 . Academic Journal
First LIPA Mutational Analysis in Egyptian Patients Reveals One Novel Variant: Wolman Disease.
저자
by
Elaraby, Nesma M.
;
Galal, Eman Reda
;
Abdel-Hamid, Mohamed
;
Elbendary, Hasnaa M.
;
Elbadry, Mohamed
, et al.
소스
Journal of Molecular Neuroscience; Aug2023, Vol. 73 Issue 7/8, p598-607, 10p
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7 . Academic Journal
Spondyloenchondrodysplasia in five new patients: identification of three novel ACP5 variants with variable neurological presentations.
저자
by
Elhossini, Rasha M.
;
Elbendary, Hasnaa M.
;
Rafat, Karima
;
Ghorab, Raghda M.
;
Abdel-Hamid, Mohamed S.
.
소스
Molecular Genetics & Genomics
. May2023, Vol. 298 Issue 3, p709-720. 12p.
Web of Science
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7 . Periodical
Brain monoamine vesicular transport disease caused by homozygous SLC18A2variants: A study in 42 affected individuals
저자
by
Saida, Ken
;
Maroofian, Reza
;
Sengoku, Toru
;
Mitani, Tadahiro
;
Pagnamenta, Alistair T.
, et al.
소스
Genetics in Medicine; January 2023, Vol. 25 Issue: 1 p90-102, 13p
Full Text (ScienceDirect)
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7 . Academic Journal
El-Hattab-Alkuraya syndrome caused by biallelic WDR45B pathogenic variants: Further delineation of the phenotype and genotype.
저자
by
Almannai, Mohammed
;
Marafi, Dana
;
Abdel-Salam, Ghada M. H.
;
Zaki, Maha S.
;
Duan, Ruizhi
, et al.
소스
Clinical Genetics
. May/Jun2022, Vol. 101 Issue 5/6, p530-540. 11p.
Web of Science
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7 . Academic Journal
A founder mutation in PEX12 among Egyptian patients in peroxisomal biogenesis disorder.
저자
by
Zaki, Maha S.
;
Issa, Mahmoud Y.
;
Thomas, Manal M.
;
Elbendary, Hasnaa M.
;
Rafat, Karima
, et al.
소스
Neurological Sciences
. Jul2021, Vol. 42 Issue 7, p2737-2745. 9p. 2 Black and White Photographs, 4 Graphs.
Web of Science
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