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1 . Academic Journal
Involvement of mitochondrial dysfunction in pathogenesis of hemophagocytic lymphohistiocytosis
저자
by
Mazhor Aldosary
;
Maha Al-Otaibi
;
Fatima Al-Fadhli
;
Namik Kaya
;
Raashda Sulaiman
, et al.
소스
Journal of Biochemical and Clinical Genetics, Vol 2, Iss 1, Pp 81-84 (2019)
Open Access (DOAJ)
Find it @ DONGA
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7 .
Clinical characterization and further confirmation of the autosomal recessive SLC12A2 disease
저자
by
Monis Bilal Shamsi
;
Ali Alasmari
;
Mohamed Saleh
;
Makki Almuntashri
;
Manar Samman
, et al.
소스
Journal of Human Genetics
. 66:689-695
Web of Science
Scopus
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7 .
Involvement of mitochondrial dysfunction in pathogenesis of hemophagocytic lymphohistiocytosis
저자
by
Raashda A Sulaiman
;
Fatima Al-Fadhli
;
Namik Kaya
;
Maha Alotaibi
;
Mazhor Al-Dosary
, et al.
소스
Journal of Biochemical and Clinical Genetics
. :81-84
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7 .
Biallelic loss of function variant in the unfolded protein response gene PDIA6 is associated with asphyxiating thoracic dystrophy and neonatal-onset diabetes
저자
by
Manal Afqi
;
Fatima Al-Fadhli
;
Naif A.M. Almontashiri
;
Firoz Abdud Samad
;
Ghadeer Alharbi
, et al.
소스
Clinical geneticsREFERENCES
. 99(5)
Scopus
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7 .
GZF1 Mutations Expand the Genetic Heterogeneity of Larsen Syndrome
저자
by
Fatima Al-Fadhli
;
Fowzan S. Alkuraya
;
Hanan E. Shamseldin
;
Nisha Patel
;
Salma M. Wakil
, et al.
소스
The American Journal of Human Genetics
. 100:831-836
Open Access (OpenAIRE)
Full Text (ScienceDirect O/A)
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7 .
Mutations in CIT, encoding citron rho-interacting serine/threonine kinase, cause severe primary microcephaly in humans
저자
by
Fatima Al-Fadhli
;
Amal M. Hashem
;
Ranad Shaheen
;
Nour Ewida
;
Ghada M H Abdel-Salam
, et al.
소스
Human Genetics
. 135:1191-1197
Web of Science
Scopus
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7 .
A Heterozygous Mutation in the Triple Helical Region of the Alpha 1 (II) Chain of the COL2A1 Protein Causes Non-Lethal Spondyloepiphyseal Dysplasia Congenita
저자
by
Sulman Basit
;
Yasir N Khan
;
Fatima Al-Fadhli
;
Anhar Ullah
;
Sibtain Afzal
, et al.
소스
Genetic testing and molecular biomarkers
. 23(5)
Scopus
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7 .
Missense Mutations in the CTSC Gene in Saudi Families Segregating Papillon-Lefèvre Syndrome
저자
by
Ahmad Almatrafi
;
Alia M. Albalawi
;
Fatima Al-Fadhli
;
Jamil A. Hashmi
;
Khushnooda Ramzan
, et al.
소스
Annals of Dermatology
. 32:77
Open Access (OpenAIRE)
Web of Science
Scopus
KCI 등재 저널
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7 .
A novel syndrome of abnormal striatum and congenital cataract: evidence for linkage to chromosomes 11
저자
by
Albandary Al-Bakheet
;
Nada AbuDheim
;
Fatima Al-Fadhli
;
Brian F. Meyer
;
Jawaher Al-Zahrani
, et al.
소스
Clinical Genetics
. 84:258-264
Web of Science
Scopus
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7 .
Clinical and biochemical features associated with BCS1L mutation
저자
by
Mohammed Al-Owain
;
Abdulaziz Al-Sugair
;
Banan Al-Younes
;
Moeen Al-Sayed
;
Zuhair Rahbeeni
, et al.
소스
Journal of inherited metabolic disease
. 36(5)
Scopus
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