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Abdel‐Salam, Ghada
198  results:
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1

Multilocus pathogenic variation in ZC4H2, MUSK, CAPN3, and ..:

Herman, Isabella ; Marafi, Dana ; Abdelsalam, Ghada...
Neurology.  96 (2021)  15_supplement - p. , 2021
Link: https://doi.org/10.1212/..
 
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2

Clinical features of SMARCA2 duplication overlap with Coffi..:

Miyake, Noriko ; Abdel‐Salam, Ghada ; Yamagata, Takanori...
American Journal of Medical Genetics Part A.  170 (2016)  10 - p. 2662-2670 , 2016
Link: https://doi.org/10.1002/..
 
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3

Extending the mutation spectrum for Galloway–Mowat syndrome..:

Rosti, Rasim O. ; Dikoglu, Esra ; Zaki, Maha S....
American Journal of Medical Genetics Part A.  170 (2016)  4 - p. 992-998 , 2016
Link: https://doi.org/10.1002/..
 
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4

PYCR2 Mutations cause a lethal syndrome of microcephaly and..:

Zaki, Maha S. ; Bhat, Gifty ; Sultan, Tipu...
Annals of Neurology.  80 (2016)  1 - p. 59-70 , 2016
Link: https://doi.org/10.1002/..
 
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5

Identification of a novel recessive RELN mutation using a h..:

Zaki, Maha ; Shehab, Marwa ; El‐Aleem, Alice Abd...
American Journal of Medical Genetics Part A.  143A (2007)  9 - p. 939-944 , 2007
Link: https://doi.org/10.1002/..
 
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6

Characterization of human disease phenotypes associated wit..:

Crow, Yanick J. ; Chase, Diana S. ; Lowenstein Schmidt, Johanna...
American Journal of Medical Genetics Part A.  167 (2015)  2 - p. 296-312 , 2015
Link: https://doi.org/10.1002/..
 
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7

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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8

A founder PPIL1 variant underlies a recognizable form of mi..:

Abdel‐Salam, Ghada M. H. ; Abdel‐Hamid, Mohamed S.
Clinical Genetics.  104 (2023)  3 - p. 356-364 , 2023
Link: https://doi.org/10.1111/..
 
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9

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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10

El‐Hattab‐Alkuraya syndrome caused by biallelic WDR45B path..:

Almannai, Mohammed ; Marafi, Dana ; Abdel‐Salam, Ghada M. H....
Clinical Genetics.  101 (2022)  5-6 - p. 530-540 , 2022
Link: https://doi.org/10.1111/..
 
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11

Chromosome 9p terminal deletion in nine Egyptian patients a..:

Mohamed, Amal M. ; Kamel, Alaa K. ; Eid, Maha M....
Molecular Genetics & Genomic Medicine.  9 (2021)  11 - p. , 2021
Link: https://doi.org/10.1002/..
 
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12

Quantitative dissection of multilocus pathogenic variation ..:

Herman, Isabella ; Jolly, Angad ; Du, Haowei...
American Journal of Medical Genetics Part A.  188 (2021)  3 - p. 735-750 , 2021
Link: https://doi.org/10.1002/..
 
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13

Expanding the phenotypic and allelic spectrum of SMG8: Clin..:

Abdel‐Salam, Ghada M. H. ; Duan, Ruizhi ; Abdel‐Hamid, Mohamed S....
American Journal of Medical Genetics Part A.  188 (2021)  2 - p. 648-657 , 2021
Link: https://doi.org/10.1002/..
 
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14

Biallelic variants in HPDL, encoding 4-hydroxyphenylpyruvat..:

Ghosh, Shereen G. ; Lee, Sangmoon ; Fabunan, Rudy...
Genetics in Medicine.  23 (2021)  3 - p. 524-533 , 2021
Link: https://doi.org/10.1038/..
 
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15

Expanding the KIF4A‐associated phenotype:

Kalantari, Silvia ; Carlston, Colleen ; Alsaleh, Norah...
American Journal of Medical Genetics Part A.  185 (2021)  12 - p. 3728-3739 , 2021
Link: https://doi.org/10.1002/..
 
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