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Fatima Almusafri
Observed names:
F. Al‐Musafri,
Fatima Al Musafri,
Fatima Al. Musafri,
Fatima Al‐Musafri
Institution:
Hamad Medical Corporation
Observed institution:
Hamad Medical Corporation
OpenAlex ID:
A5084848432
Expanding the genetic heterogeneity of intellectual disability
2017
·
Shams Anazi
, Sateesh Maddirevula
, et al.
·
Human Genetics
·
168
Molecular autopsy in maternal–fetal medicine
2017
·
Hanan E. Shamseldin
, Wesam Kurdi
, et al.
·
Genetics in Medicine
·
131
PDF
Activating de novo mutations in NFE2L2 encoding NRF2 cause a multisystem disorder
2017
·
Peter Huppke
, Susann Weissbach
, et al.
·
Nature Communications
·
97
PDF
Genetic variants in the KDM6B gene are associated with neurodevelopmental delays and dysmorphic features
2019
·
Elliot S. Stolerman
, Elizabeth Francisco
, et al.
·
American Journal of Medical Genetics Part A
·
49
Mutations in MYLPF Cause a Novel Segmental Amyoplasia that Manifests as Distal Arthrogryposis
2020
·
Jessica X. Chong
, Jared C. Talbot
, et al.
·
The American Journal of Human Genetics
·
34
PDF
Clinical and molecular characterization of 6 children with glutamate-cysteine ligase deficiency causing hemolytic anemia
2017
·
Fatima Almusafri
, Hiba E. Elamin
, et al.
·
Blood Cells Molecules and Diseases
·
22
Correction to: Expanding the genetic heterogeneity of intellectual disability
2017
·
Shams Anazi
, Sateesh Maddirevula
, et al.
·
Human Genetics
·
5
PDF
EP11.13: Prenatal arterial tortuosity syndrome: a de facto late diagnosis
2018
·
S. Al‐Obaidly
, R. Kamal
, et al.
·
Ultrasound in Obstetrics and Gynecology
·
3
PDF
Response to Hall et al.
2020
·
Jessica X. Chong
, Jared C. Talbot
, et al.
·
The American Journal of Human Genetics
PDF
Heritable Neuromuscular Diseases in Qatar: Recent Advances and Future Planning: Panel discussion
2020
·
Sheikh Mohamed Al-Thani
, Mahmoud Fawzi Elsaid
, et al.
·
QScience Proceedings
EP09.11: Prenatal cephalocentesis: revisit the outcome
2018
·
S. Al‐Obaidly
, Z. Al‐Mansouri
, et al.
·
Ultrasound in Obstetrics and Gynecology
PDF
FV 241. Mutations in NFE2L2 Lead to a Novel Treatable Neurological Disorder with Leukoencephalopathy
2018
·
Peter Huppke
, Susann Weissbach
, et al.
·
Neuropediatrics
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Works count:
12
Citation count:
509
H-index:
6
I10-index:
6
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