Concepedia
Author
Abeer Al Sayegh
Also Known As
6
Publications
156
Citations
5
H-Index
0
Concepts
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All Concepts
4
145
Targeted methylation testing of a patient cohort broadens the epigenetic and clinical description of imprinting disorders
Rebecca Poole, Louise E Docherty, Abeer Al Sayegh, +8
American Journal of Medical Genetics Part A
2013
75
A novel mutation in DDR2 causing spondylo-meta-epiphyseal dysplasia with short limbs and abnormal calcifications (SMED-SL) results in defective intra-cellular trafficking
Adila Al‐Kindi, Praseetha Kizhakkedath, Huifang Xu, +8
BMC Medical Genetics
2014
32
PDZD8 Disruption Causes Cognitive Impairment in Humans, Mice, and Fruit Flies
Ahmed H. Al-Amri, Paul Armstrong, Mascia Amici, +22
Biological Psychiatry
2022
28
Inborn errors of metabolism in a cohort of pregnancies with non-immune hydrops fetalis: a single center experience
Zandrè Bruwer, Nihal Al Riyami, Tamima Al Dughaishi, +9
Journal of Perinatal Medicine
2017
10
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