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1 . Academic Journal
P032: Decoding the genetic tapestry of long chain fatty acid oxidation disorders: Unveiling novel insights with a dynamic locus-specific gene database
저자
by
Vanessa Rangel Miller
;
Heather Richbourg
;
Jerry Vockley
;
Omid Japalaghi
;
Moeenaldeen AlSayed
, et al.
소스
Genetics in Medicine Open, Vol 2, Iss , Pp 100909- (2024)
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7 . Academic Journal
European Achondroplasia Forum guiding principles for the detection and management of foramen magnum stenosis
저자
by
Melita Irving
;
Moeenaldeen AlSayed
;
Paul Arundel
;
Geneviève Baujat
;
Tawfeg Ben-Omran
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-8 (2023)
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7 . Academic Journal
Expanding the allelic spectrum of ELOVL4‐related autosomal recessive neuro‐ichthyosis
저자
by
Fatima Alabdulrazzaq
;
Talal Alanzi
;
Haya H. Al‐Balool
;
Alice Gardham
;
Emma Wakeling
, et al.
소스
Molecular Genetics & Genomic Medicine, Vol 11, Iss 12, Pp n/a-n/a (2023)
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7 . Academic Journal
Real-world evidence in achondroplasia: considerations for a standardized data set
저자
by
Yasemin Alanay
;
Klaus Mohnike
;
Ola Nilsson
;
Inês Alves
;
Moeenaldeen AlSayed
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-9 (2023)
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7 . Academic Journal
The landscape of acid sphingomyelinase deficiency in a new therapeutic era: insights from experts in the Gulf region
저자
by
Moeenaldeen AlSayed
;
Fatma Al-Jasmi
;
Tawfeg Ben Omran
;
Fathiya Al-Murshedi
;
Rawda Sunbul
, et al.
소스
Journal of Biochemical and Clinical Genetics, Vol 6, Iss 1, Pp 41-56 (2023)
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7 . Academic Journal
Optimising care and follow-up of adults with achondroplasia
저자
by
Svein Fredwall
;
Yana Allum
;
Moeenaldeen AlSayed
;
Inês Alves
;
Tawfeg Ben-Omran
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-10 (2022)
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7 . Academic Journal
Optimising the diagnosis and referral of achondroplasia in Europe: European Achondroplasia Forum best practice recommendations
저자
by
Valerie Cormier-Daire
;
Moeenaldeen AlSayed
;
Inês Alves
;
Joana Bengoa
;
Tawfeg Ben-Omran
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-10 (2022)
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7 . Academic Journal
A case report of a first pregnant woman with late-onset multiple acyl-CoA dehydrogenase deficiency in Saudi Arabia
저자
by
Shirin Al Sharfa
;
Rawda Sunbul
;
Zainab Al Masseri
;
Moeenaldeen AlSayed
;
Zuhair N. Al-Hassnan
.
소스
Journal of Biochemical and Clinical Genetics, Vol 5, Iss 1, Pp 20-24 (2022)
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7 . Academic Journal
The first European consensus on principles of management for achondroplasia
저자
by
Valerie Cormier-Daire
;
Moeenaldeen AlSayed
;
Tawfeg Ben-Omran
;
Sérgio Bernardo de Sousa
;
Silvio Boero
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-7 (2021)
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7 . Academic Journal
Gonadal mosaicism in GNAO1 causing neurodevelopmental disorder with involuntary movements; two additional variants
저자
by
Zainab Al Masseri
;
Moeenaldeen AlSayed
.
소스
Molecular Genetics and Metabolism Reports, Vol 31, Iss , Pp 100864- (2022)
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