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Abdel‐Ghafar, Sherif F.
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1

The clinical and genetic landscape of developmental and epi..:

Elkhateeb, Nour ; Issa, Mahmoud Y. ; Elbendary, Hasnaa M....
Clinical Genetics.  105 (2024)  5 - p. 510-522 , 2024
Link: https://doi.org/10.1111/..
 
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2

CHST3‐related skeletal dysplasia in 14 patients: Identifica..:

Otaify, Ghada A. ; Elhossini, Rasha M. ; Abdel‐Ghafar, Sherif F....
American Journal of Medical Genetics Part A.  191 (2023)  8 - p. 2100-2112 , 2023
Link: https://doi.org/10.1002/..
 
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3

Delineating the phenotype of PNPLA8‐related mitochondriopat..:

Abdel‐Hamid, Mohamed S. ; Abdel‐Salam, Ghada M. H. ; Abdel‐Ghafar, Sherif F..
Clinical Genetics.  105 (2023)  1 - p. 92-98 , 2023
Link: https://doi.org/10.1111/..
 
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4

Bruck syndrome in 13 new patients: Identification of five n..:

Otaify, Ghada A. ; Abdel‐Hamid, Mohamed S. ; Hassib, Nehal F....
American Journal of Medical Genetics Part A.  188 (2022)  6 - p. 1815-1825 , 2022
Link: https://doi.org/10.1002/..
 
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5

Raine syndrome: Prenatal diagnosis based on recognizable fe..:

El‐Dessouky, Sara H. ; Abdel‐Hamid, Mohamed S. ; Abdel‐Ghafar, Sherif F....
Prenatal Diagnosis.  40 (2020)  12 - p. 1578-1597 , 2020
Link: https://doi.org/10.1002/..
 
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6

Microcephalic osteodysplastic primordial dwarfism type II: ..:

Abdel‐Salam, Ghada M. H. ; Sayed, Inas S. M. ; Afifi, Hanan H....
American Journal of Medical Genetics Part A.  182 (2020)  6 - p. 1407-1420 , 2020
Link: https://doi.org/10.1002/..
 
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7

Micro and Martsolf syndromes in 34 new patients: Refining t..:

Abdel‐Hamid, Mohamed S. ; Abdel‐Ghafar, Sherif F. ; Ismail, Suzan R....
Clinical Genetics.  98 (2020)  5 - p. 445-456 , 2020
Link: https://doi.org/10.1111/..
 
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8

A missense variant in EXOSC8 causes exon skipping and expan..:

Zaki, Maha S. ; Abdel-Ghafar, Sherif F. ; Abdel-Hamid, Mohamed S.
Journal of Human Genetics.  69 (2023)  2 - p. 79-84 , 2023
Link: https://doi.org/10.1038/..
 
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9

Congenital leptin and leptin receptor deficiencies in nine ..:

Mazen, Inas H. ; El-Gammal, Mona A. ; Elaidy, Aya A....
Molecular Genetics and Genomics.  298 (2023)  4 - p. 919-929 , 2023
Link: https://doi.org/10.1007/..
 
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10

An atypical expression of core α-Dystroglycan and Laminin-α..:

Sabry, Sahar ; Issa, Mahmoud Y ; Abdel-Hamid, Mohamed S...
Molecular Biology Reports.  50 (2023)  8 - p. 6373-6379 , 2023
Link: https://doi.org/10.1007/..
 
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11

Osteoporosis-pseudoglioma syndrome in four new patients: id..:

Abdel-Hamid, Mohamed S. ; Elhossini, Rasha M. ; Otaify, Ghada A...
Osteoporosis International.  33 (2022)  7 - p. 1501-1510 , 2022
Link: https://doi.org/10.1007/..
 
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12

Fetal brain arrest broadens the spectrum of WDR81-related d..:

Abdel-Hamid, Mohamed S. ; Sabry, Sahar ; Abdel-Ghafar, Sherif F...
neurogenetics.  22 (2021)  4 - p. 287-295 , 2021
Link: https://doi.org/10.1007/..
 
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13

Phenotypic and mutational spectrum of thirty-five patients ..:

Abdel-Hamid, Mohamed S. ; Issa, Mahmoud Y. ; Elbendary, Hasnaa M....
Journal of Human Genetics.  64 (2019)  9 - p. 859-865 , 2019
Link: https://doi.org/10.1038/..
 
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14

Aicardi-Goutières syndrome: unusual neuro-radiological mani..:

Abdel-Salam, Ghada M. H. ; Abdel-Hamid, Mohamed S. ; Mohammad, Shaimaa A....
Metabolic Brain Disease.  32 (2017)  3 - p. 679-683 , 2017
Link: https://doi.org/10.1007/..
 
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15

Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neuro..:

Chai, Guoliang ; Webb, Alice ; Li, Chen...
qt6w53352f.  , 2021
Link: https://escholarship.org..
 
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