Works matching AU Abdel-Hamid, Mohamed S.

Results: 69

PYCR2 Mutations cause a lethal syndrome of microcephaly and failure to thrive.

Published in:

2016

By:

Zaki, Maha S.;
Bhat, Gifty;
Sultan, Tipu;
Issa, Mahmoud;
Jung, Hea‐Jin;
Dikoglu, Esra;
Selim, Laila;
G. Mahmoud, Imam;
Abdel‐Hamid, Mohamed S.;
Abdel‐Salam, Ghada;
Marin‐Valencia, Isaac;
Gleeson, Joseph G.;
Jung, Hea-Jin;
Abdel-Hamid, Mohamed S;
Abdel-Salam, Ghada;
Marin-Valencia, Isaac

Publication type:

journal article

Delineating the Clinical and Brain Imaging Characteristics of the Neonatal Form of CSTB‐Related Neurodevelopmental Disorders.

Published in:

Clinical Genetics, 2025, v. 108, n. 2, p. 184, doi. 10.1111/cge.14720

By:

Abdel‐Hamid, Mohamed S.;
Abdel‐Ghafar, Sherif F.;
Sayed, Inas S. M.;
Zaki, Maha S.;
Abdel‐Salam, Ghada M. H.

Publication type:

Article

Ritscher-Schinzel syndrome can be characterized as an endosomal recyclinopathy.

Published in:

Science Translational Medicine, 2025, v. 17, n. 805, p. 1, doi. 10.1126/scitranslmed.adt2426

By:

Kato, Kohji;
Nishio, Yosuke;
McMillan, Kirsty J.;
Al-Maraghi, Aljazi;
Kroes, Hester Y.;
Abdel-Hamid, Mohamed S.;
Jones, Emma;
Shaw, Shrestha;
Yoshida, Aya;
Otsuji, Shiomi;
Murofushi, Yuka;
Aamer, Waleed;
Bhat, Ajaz A.;
AlRayahi, Jehan;
Al-Shabeeb Akil, Ammira S.;
Aliyev, Elbay;
van Binsbergen, Ellen;
Janssen, Etienne J.;
Mehrin, Kazi Mahnaz;
Oishi, Hisashi

Publication type:

Article

ADAT3-related neurodevelopmental disorder in 24 new patients with a high frequency of the p.Val144Met and a new founder variant.

Published in:

Scientific Reports, 2025, v. 15, n. 1, p. 1, doi. 10.1038/s41598-025-06857-2

By:

Rafat, Karima;
Abdel-Aleem, Asmaa F.;
Elbendary, Hasnaa M.;
Issa, Mahmoud Y.;
Essawi, Mona L.;
Abdel-Ghafar, Sherif F.;
Abdel-Salam, Ghada M. H.;
Abdel-Hamid, Mohamed S.;
Zaki, Maha S.

Publication type:

Article

A Homozygous Missense Variant in Hedgehog Acyltransferase (HHAT) Gene Associated with 46,XY Gonadal Dysgenesis.

Published in:

2023

By:

Mazen, Inas;
Kamel, Alaa;
McElreavey, Kenneth;
Bashamboo, Anu;
Elaidy, Aya;
Abdel-Hamid, Mohamed S.

Publication type:

Case Study

A Homozygous Missense Variant in Hedgehog Acyltransferase (HHAT) Gene Associated with 46,XY Gonadal Dysgenesis.

Published in:

2022

By:

Mazen, Inas;
Kamel, Alaa;
McElreavey, Kenneth;
Bashamboo, Anu;
Elaidy, Aya;
Abdel-Hamid, Mohamed S.

Publication type:

Case Study

Aromatase Deficiency due to a Homozygous <bold><italic>CYP19A1</italic></bold> Mutation in a 46,XX Egyptian Patient with Ambiguous Genitalia.

Published in:

Sexual Development, 2017, v. 11, n. 5/6, p. 275, doi. 10.1159/000485278

By:

Mazen, Inas;
McElreavey, Ken;
Elaidy, Aya;
Kamel, Alaa K.;
Abdel-Hamid, Mohamed S.

Publication type:

Article

Novel AMH and AMHR2 Mutations in Two Egyptian Families with Persistent Müllerian Duct Syndrome.

Published in:

Sexual Development, 2017, v. 11, n. 1, p. 29, doi. 10.1159/000455019

By:

Mazen, Inas;
El-Gammal, Mona;
McElreavey, Ken;
Elaidy, aya;
abdel-Hamid, Mohamed S.

Publication type:

Article

A recurrent KCNK4 variant in a dominant pedigree with hypertrichosis and gingival fibromatosis syndrome: Variable phenotypic expressivity and insights on patients' dental management.

Published in:

American Journal of Medical Genetics. Part A, 2024, v. 194, n. 1, p. 39, doi. 10.1002/ajmg.a.63415

By:

Elhossini, Rasha M.;
Sayed, Inas M.;
Hellal, Usama Saad;
Mahmoud, Sarah A. M.;
Aglan, Mona S.;
Hassib, Nehal F.;
Abdel‐Hamid, Mohamed S.

Publication type:

Article

Refining the phenotypic spectrum of CCDC88A‐related PEHO‐like syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2024, v. 194, n. 2, p. 226, doi. 10.1002/ajmg.a.63425

By:

Issa, Mahmoud Y.;
Hafez, Mona A.;
Mounir, Samir M.;
Abdel Ghafar, Sherif F.;
Zaki, Maha S.;
Abdel‐Hamid, Mohamed S.

Publication type:

Article

CHST3‐related skeletal dysplasia in 14 patients: Identification of 8 novel variants and further expansion of the phenotypic spectrum.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 8, p. 2100, doi. 10.1002/ajmg.a.63246

By:

Otaify, Ghada A.;
Elhossini, Rasha M.;
Abdel‐Ghafar, Sherif F.;
Sayed, Inas M.;
Abdel‐Salam, Ghada M. H.;
Aglan, Mona S.;
Abdel‐Hamid, Mohamed S.

Publication type:

Article

The clinical and genetic landscape of developmental and epileptic encephalopathies in Egyptian children.

Published in:

Clinical Genetics, 2024, v. 105, n. 5, p. 510, doi. 10.1111/cge.14481

By:

Elkhateeb, Nour;
Issa, Mahmoud Y.;
Elbendary, Hasnaa M.;
Elnaggar, Walaa;
Ramadan, Areef;
Rafat, Karima;
Kamel, Mona;
Abdel‐Ghafar, Sherif F.;
Amer, Fawzia;
Hassaan, Hebatallah M.;
Trunzo, Roberta;
Pereira, Catarina;
Abdel‐Hamid, Mohamed S.;
D'Arco, Felice;
Bauer, Peter;
Bertoli‐Avella, Aida M.;
Girgis, Marian;
Gleeson, Joseph G.;
Zaki, Maha S.;
Selim, Laila

Publication type:

Article

Delineating the phenotype of PNPLA8‐related mitochondriopathies.

Published in:

Clinical Genetics, 2024, v. 105, n. 1, p. 92, doi. 10.1111/cge.14421

By:

Abdel‐Hamid, Mohamed S.;
Abdel‐Salam, Ghada M. H.;
Abdel‐Ghafar, Sherif F.;
Zaki, Maha S.

Publication type:

Article

A founder PPIL1 variant underlies a recognizable form of microlissencephaly with pontocerebellar hypoplasia.

Published in:

Clinical Genetics, 2023, v. 104, n. 3, p. 356, doi. 10.1111/cge.14357

By:

Abdel‐Salam, Ghada M. H.;
Abdel‐Hamid, Mohamed S.

Publication type:

Article

Clinical and molecular spectrum of a large Egyptian cohort with ALS2‐related disorders of infantile‐onset of clinical continuum IAHSP/JPLS.

Published in:

Clinical Genetics, 2023, v. 104, n. 2, p. 238, doi. 10.1111/cge.14338

By:

Zaki, Maha S.;
Sharaf‐Eldin, Wessam E.;
Rafat, Karima;
Elbendary, Hasnaa M.;
Kamel, Mona;
Elkhateeb, Nour;
Noureldeen, Mahmoud M.;
Abdeltawab, Mohamed A.;
Sadek, Abdelrahim A.;
Essawi, Mona L.;
Lau, Tracy;
Murphy, David;
Abdel‐Hamid, Mohamed S.;
Holuden, Henry;
Issa, Mahmoud Y.;
Gleeson, Joseph G.

Publication type:

Article

ASAH1‐related disorders: Description of 15 novel pediatric patients and expansion of the clinical phenotype.

Published in:

Clinical Genetics, 2020, v. 98, n. 6, p. 598, doi. 10.1111/cge.13834

By:

Mahmoud, Iman G.;
Elmonem, Mohamed A.;
Zaki, Maha S.;
Ramadan, Areef;
Al‐Menabawy, Nihal M.;
El‐Gamal, Aya;
Mansour, Lobna;
Issa, Mahmoud Y.;
Abdel‐Hamid, Mohamed S.;
Abdel‐Hady, Sawsan;
Khalifa, Iman;
Ibrahim, Ahmed;
Solyom, Alexander;
Rolfs, Arndt;
Selim, Laila

Publication type:

Article

Micro and Martsolf syndromes in 34 new patients: Refining the phenotypic spectrum and further molecular insights.

Published in:

Clinical Genetics, 2020, v. 98, n. 5, p. 445, doi. 10.1111/cge.13825

By:

Abdel‐Hamid, Mohamed S.;
Abdel‐Ghafar, Sherif F.;
Ismail, Suzan R.;
Desouky, Lubna M.;
Issa, Mahmoud Y.;
Effat, Laila K.;
Zaki, Maha S.

Publication type:

Article

Molecular diagnosis in recessive pediatric neurogenetic disease can help reduce disease recurrence in families.

Published in:

BMC Medical Genomics, 2020, v. 13, n. 1, p. 1, doi. 10.1186/s12920-020-0714-1

By:

Issa, Mahmoud Y.;
Chechlacz, Zinayida;
Stanley, Valentina;
George, Renee D.;
McEvoy-Venneri, Jennifer;
Belandres, Denice;
Elbendary, Hasnaa M.;
Gaber, Khaled R.;
Nabil, Ahmed;
Abdel-Hamid, Mohamed S.;
Zaki, Maha S.;
Gleeson, Joseph G.

Publication type:

Article

Two new patients with focal dermal hypoplasia: A novel PORCN variant and insights on the diagnostic considerations.

Published in:

Congenital Anomalies, 2022, v. 62, n. 2, p. 68, doi. 10.1111/cga.12457

By:

Elhossini, Rasha Moheb;
Abdel‐Hamid, Mohamed S.;
Ashaat, Engy;
Otaify, Ghada A.;
Dawoud, Heba;
Elshimy, Khalid;
El Ruby, Mona;
Aglan, Mona

Publication type:

Article

A Novel Mutation (c.2735_2736delTC) in the Androgen Receptor Gene in 46,XY Females with Complete Androgen Insensitivity Syndrome in an Egyptian Family.

Published in:

Hormone Research in Paediatrics, 2015, v. 82, n. 6, p. 411, doi. 10.1159/000360292

By:

Mazen, Inas;
Soliman, Hala;
El-Gammal, Mona;
Torky, ahmed;
Mekkawy, Mona;
abdel-Hamid, Mohamed S.;
Essawi, Mona

Publication type:

Article

Bilateral Calcification of Basal Ganglia in a Patient with Duplication of Both 11q13.1q22.1 and 4q35.2 with New Phenotypic Features.

Published in:

Cytogenetic & Genome Research, 2019, v. 159, n. 3, p. 130, doi. 10.1159/000504075

By:

Zaki, Maha S.;
Eid, Ola M.;
Eid, Maha M.;
Mohamed, amal M.;
Sayed, Inas S.M.;
abdel-Hamid, Mohamed S.;
abdel-Salam, Ghada M.H.

Publication type:

Article

Further delineation of the oculoauricular syndrome phenotype: A new family with a novel truncating HMX1 mutation.

Published in:

Ophthalmic Genetics, 2018, v. 39, n. 2, p. 215, doi. 10.1080/13816810.2017.1401089

By:

Abdel-Salam, Ghada M.H.;
Abdel-Hamid, Mohamed S.;
Mehrez, Mennat I.;
Kamal, Ahmad M.;
Taher, Mohamed B.;
Afifi, Hanan H.

Publication type:

Article

Screening for TSEN54 Variants in Egyptian Patients with Pontocerebellar Malformations.

Published in:

Molecular Syndromology, 2024, v. 15, n. 6, p. 474, doi. 10.1159/000539364

By:

Emam, Bayoumi A.;
Abdel-Hamid, Mohamed S.;
Eid, Maha;
Girgis, Marian;
Ragab, Omar A.;
Zaki, Maha S.;
El-Kiki, Hassan;
Abdel-Hady, Sawsan;
Abdel-Salam, Ghada M.H.

Publication type:

Article

Dandy-Walker Malformation in a Girl with DDX3X-Related Intellectual Disability.

Published in:

Molecular Syndromology, 2023, v. 14, n. 6, p. 523, doi. 10.1159/000531715

By:

Rafat, Karima;
Abdel-Hamid, Mohamed S.;
Abdel-Salam, Ghada M.H.

Publication type:

Article

X-Linked Hydrocephalus with New L1CAM Pathogenic Variants: Review of the Most Prevalent Molecular and Phenotypic Features.

Published in:

Molecular Syndromology, 2023, v. 14, n. 4, p. 283, doi. 10.1159/000529545

By:

Ahmed, Rania R.;
Medhat, Amina M.;
Hamdy, Germine M.;
Effat, Laila K.E.;
Abdel-Hamid, Mohamed S.;
Abdel-Salam, Ghada M.H.

Publication type:

Article

Further Evidence of a Continuum in the Clinical Spectrum of Dominant PIEZO2-Related Disorders and Implications in Cerebellar Anomalies.

Published in:

Molecular Syndromology, 2022, v. 13, n. 5, p. 389, doi. 10.1159/000523956

By:

Abdel-Salam, Ghada M.H.;
Afifi, Hanan H.;
Saleem, Sahar N.;
Gadelhak, Mohamed I.;
El-Serafy, Manar A.;
Sayed, Inas S.M.;
Abdel-Hamid, Mohamed S.

Publication type:

Article

First Report of Two Egyptian Patients with Desbuquois Dysplasia due to Homozygous CANT1 Mutations.

Published in:

Molecular Syndromology, 2021, v. 12, n. 5, p. 279, doi. 10.1159/000516607

By:

Thomas, Manal M.;
Ashaat, Engy A.;
Otaify, Ghada A.;
Ismail, Samira;
Essawi, Mona L.;
Abdel-Hamid, Mohamed S.;
Hassan, Heba A.;
Alsaiedi, Sonia A.;
Aglan, Mona;
El Ruby, Mona O.;
Temtamy, Samia

Publication type:

Article

Fetal brain arrest broadens the spectrum of WDR81-related developmental brain malformations.

Published in:

Neurogenetics, 2021, v. 22, n. 4, p. 287, doi. 10.1007/s10048-021-00665-2

By:

Abdel-Hamid, Mohamed S.;
Sabry, Sahar;
Abdel-Ghafar, Sherif F.;
El-Dessouky, Sara H.;
Abdel-Salam, Ghada M. H.

Publication type:

Article

Isolated dentinogenesis imperfecta: Novel DSPP variants and insights on genetic counselling.

Published in:

Clinical Oral Investigations, 2024, v. 28, n. 5, p. 1, doi. 10.1007/s00784-024-05636-z

By:

Hassib, Nehal F.;
Mehrez, Mennat;
Mostafa, Mostafa I.;
Abdel-Hamid, Mohamed S.

Publication type:

Article

Raine syndrome: Prenatal diagnosis based on recognizable fetal facial features and characteristic intracranial calcification.

Published in:

Prenatal Diagnosis, 2020, v. 40, n. 12, p. 1578, doi. 10.1002/pd.5818

By:

El‐Dessouky, Sara H.;
Abdel‐Hamid, Mohamed S.;
Abdel‐Ghafar, Sherif F.;
Aboulghar, Mona M.;
Gaafar, Hassan M.;
Fouad, Mona;
Ahmed, Adel H.;
Abdel‐Salam, Ghada M. H.

Publication type:

Article

Raine syndrome: Prenatal diagnosis based on recognizable fetal facial features and characteristic intracranial calcification.

Published in:

Prenatal Diagnosis, 2020, v. 40, p. 1578, doi. 10.1002/pd.5818

By:

El‐Dessouky, Sara H.;
Abdel‐Hamid, Mohamed S.;
Abdel‐Ghafar, Sherif F.;
Aboulghar, Mona M.;
Gaafar, Hassan M.;
Fouad, Mona;
Ahmed, Adel H.;
Abdel‐Salam, Ghada M. H.

Publication type:

Article

Congenital leptin and leptin receptor deficiencies in nine new families: identification of six novel variants and review of literature.

Published in:

Molecular Genetics & Genomics, 2023, v. 298, n. 4, p. 919, doi. 10.1007/s00438-023-02025-1

By:

Mazen, Inas H.;
El-Gammal, Mona A.;
Elaidy, Aya A.;
Anwar, Ghada M.;
Ashaat, Engy A.;
Abdel-Ghafar, Sherif F.;
Abdel-Hamid, Mohamed S.

Publication type:

Article

Spondyloenchondrodysplasia in five new patients: identification of three novel ACP5 variants with variable neurological presentations.

Published in:

Molecular Genetics & Genomics, 2023, v. 298, n. 3, p. 709, doi. 10.1007/s00438-023-02009-1

By:

Elhossini, Rasha M.;
Elbendary, Hasnaa M.;
Rafat, Karima;
Ghorab, Raghda M.;
Abdel-Hamid, Mohamed S.

Publication type:

Article

Spectrum of NPHS1 and NPHS2 variants in egyptian children with focal segmental glomerular sclerosis: identification of six novel variants and founder effect.

Published in:

Molecular Genetics & Genomics, 2022, v. 297, n. 3, p. 689, doi. 10.1007/s00438-022-01877-3

By:

Thomas, Manal M.;
Ahmed, Heba Mostafa;
El-Dessouky, Sara H.;
Ramadan, Abeer;
Botrous, Osama Ezzat;
Abdel-Hamid, Mohamed S.

Publication type:

Article

Biallelic loss-of-function variants in GON4L cause microcephaly and brain structure abnormalities.

Published in:

NPJ Genomic Medicine, 2024, v. 9, n. 1, p. 1, doi. 10.1038/s41525-024-00437-5

By:

Li, Simo;
Takada, Sanami;
Abdel-Salam, Ghada M. H.;
Abdel-Hamid, Mohamed S.;
Zaki, Maha S.;
Issa, Mahmoud Y.;
Salem, Aida M. S.;
Koshimizu, Eriko;
Fujita, Atsushi;
Fukai, Ryoko;
Ohshima, Toshio;
Matsumoto, Naomichi;
Miyake, Noriko

Publication type:

Article

Mutation in WDR4 impairs tRNA m<sup>7</sup>G<sub>46</sub> methylation and causes a distinct form of microcephalic primordial dwarfism.

Published in:

Genome Biology, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s13059-015-0779-x

By:

Shaheen, Ranad;
Abdel-Salam, Ghada M. H.;
Guy, Michael P.;
Alomar, Rana;
Abdel-Hamid, Mohamed S.;
Afifi, Hanan H.;
Ismail, Samira I.;
Emam, Bayoumi A.;
Phizicky, Eric M.;
Alkuraya, Fowzan S.

Publication type:

Article

Bruck syndrome in 13 new patients: Identification of five novel FKBP10 and PLOD2 variants and further expansion of the phenotypic spectrum.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 6, p. 1815, doi. 10.1002/ajmg.a.62718

By:

Otaify, Ghada A.;
Abdel‐Hamid, Mohamed S.;
Hassib, Nehal F.;
Elhossini, Rasha M.;
Abdel‐Ghafar, Sherif F.;
Aglan, Mona S.

Publication type:

Article

Expanding the phenotypic and allelic spectrum of SMG8: Clinical observations reveal overlap with SMG9‐associated disease trait.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 2, p. 648, doi. 10.1002/ajmg.a.62561

By:

Abdel‐Salam, Ghada M. H.;
Duan, Ruizhi;
Abdel‐Hamid, Mohamed S.;
Sayed, Inas S. M.;
Jhangiani, Shalini N.;
Khan, Ziad;
Du, Haowei;
Gibbs, Richard A.;
Posey, Jennifer E.;
Marafi, Dana;
Lupski, James R.

Publication type:

Article

Blepharophimosis‐ptosis‐intellectual disability syndrome: A report of nine Egyptian patients with further expansion of phenotypic and mutational spectrum.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 12, p. 2857, doi. 10.1002/ajmg.a.61857

By:

Zaki, Maha S.;
Otaify, Ghada A.;
Ismail, Samira;
Issa, Mahmoud Y.;
El‐Ruby, Mona O.;
Sadek, Abdelrahim A.;
Ashaat, Engy A.;
El Saeidi, Sonia A.;
Aglan, Mona S.;
Temtamy, Samia;
Abdel‐Hamid, Mohamed S.

Publication type:

Article

Microcephalic osteodysplastic primordial dwarfism type II: Additional nine patients with implications on phenotype and genotype correlation.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 6, p. 1407, doi. 10.1002/ajmg.a.61585

By:

Abdel‐Salam, Ghada M. H.;
Sayed, Inas S. M.;
Afifi, Hanan H.;
Abdel‐Ghafar, Sherif F.;
Abouzaid, Maha R.;
Ismail, Samira I.;
Aglan, Mona S.;
Issa, Mahmoud Y.;
EL‐Bassyouni, Hala T.;
El‐Kamah, Ghada;
Effat, Laila K.;
Eid, Maha;
Zaki, Maha S.;
Temtamy, Samia A.;
Abdel‐Hamid, Mohamed S.

Publication type:

Article

KBG syndrome in two patients from Egypt.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 6, p. 1309, doi. 10.1002/ajmg.a.61552

By:

Sayed, Inas S. M.;
Abdel‐Hamid, Mohamed S.;
Abdel‐Salam, Ghada M.H.

Publication type:

Article

Lenz–Majewski syndrome in a patient from Egypt.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 10, p. 2039, doi. 10.1002/ajmg.a.61327

By:

Afifi, Hanan H.;
Abdel‐Hamid, Mohamed S.;
Mehrez, Mennat I.;
El‐Kamah, Ghada;
Abdel‐Salam, Ghada M. H.

Publication type:

Article

Phenotypic spectrum of NDE1‐related disorders: from microlissencephaly to microhydranencephaly.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 3, p. 494, doi. 10.1002/ajmg.a.61035

By:

Abdel‐Hamid, Mohamed S.;
El‐Dessouky, Sara H.;
Ateya, Mohamed I.;
Gaafar, Hassan M.;
Abdel‐Salam, Ghada M.H.

Publication type:

Article

GAPO syndrome in seven new patients: Identification of five novel ANTXR1 mutations including the first large intragenic deletion.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 2, p. 237, doi. 10.1002/ajmg.a.61021

By:

Abdel‐Hamid, Mohamed S.;
Ismail, Samira;
Zaki, Maha S.;
Abdel‐Salam, Ghada M. H.;
Otaify, Ghada A.;
Issa, Mahmoud Y.;
Abdel‐Kader, Mohamed;
Girgis, Marian;
Aboul‐Ezz, Eman;
Mazen, Inas;
Aglan, Mona S.;
Temtamy, Samia A.

Publication type:

Article

Phenotypic and molecular insights into PQBP1‐related intellectual disability.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2446, doi. 10.1002/ajmg.a.40479

By:

Abdel‐Salam, Ghada M. H.;
Miyake, Noriko;
Abdel‐Hamid, Mohamed S.;
Sayed, Inas S. M.;
Gadelhak, Mohamed I.;
Ismail, Samira I.;
Aglan, Mona S.;
Afifi, Hanan H.;
Temtamy, Samia A.;
Matsumoto, Naomichi

Publication type:

Article

Identification of a novel homozygous <italic>ALX4</italic> mutation in two unrelated patients with frontonasal dysplasia type‐2.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 5, p. 1190, doi. 10.1002/ajmg.a.38655

By:

El‐Ruby, Mona;
El‐Din Fayez, Alaa;
El‐Dessouky, Sara H.;
Aglan, Mona S.;
Mazen, Inas;
Ismail, Nora;
Afifi, Hanan H.;
Eid, Maha M.;
Mostafa, Mostafa I.;
Mehrez, Mennat I.;
Khalil, Yasmin;
Zaki, Maha S.;
Gaber, Khaled R.;
Abdel‐Hamid, Mohamed S.;
Abdel‐Salam, Ghada M. H.

Publication type:

Article

Molecular and phenotypic spectrum of ASPM-related primary microcephaly: Identification of eight novel mutations.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 8, p. 2133, doi. 10.1002/ajmg.a.37724

By:

Abdel‐Hamid, Mohamed S.;
Ismail, Manal F.;
Darwish, Hebatallh A.;
Effat, Laila K.;
Zaki, Maha S.;
Abdel‐Salam, Ghada M. H.

Publication type:

Article

Long-Term Survival in Microcephalic Osteodysplastic Primordial Dwarfism Type I: Evaluation of an 18-Year-Old Male with g.55G>A Homozygous Mutation in RNU4ATAC.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 1, p. 277, doi. 10.1002/ajmg.a.37409

By:

Abdel‐Salam, Ghada M.H.;
Emam, Bayoumi A.;
Khalil, Yasmin M.;
Abdel‐Hamid, Mohamed S.

Publication type:

Article

Clinical and Molecular Characterization of Seven Egyptian Families with Autosomal Recessive Robinow Syndrome: Identification of Four Novel ROR2 Gene Mutations.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 12, p. 3054, doi. 10.1002/ajmg.a.37287

By:

Aglan, Mona;
Amr, Khalda;
Ismail, Samira;
Ashour, Adel;
Otaify, Ghada A.;
Mehrez, Mennat Allah I.;
Aboul‐Ezz, Eman H. A.;
El‐Ruby, Mona;
Mazen, Inas;
Abdel‐Hamid, Mohamed S.;
Temtamy, Samia A.

Publication type:

Article

Fetal brain disruption sequence versus fetal brain arrest: A distinct autosomal recessive developmental brain malformation phenotype.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 5, p. 1089, doi. 10.1002/ajmg.a.37010

By:

Abdel‐Salam, Ghada M.H.;
Abdel‐Hamid, Mohamed S.;
El‐Khayat, Hamed A.;
Eid, Ola M.;
Saba, Soliman;
Farag, Mona K.;
Saleem, Sahar N.;
Gaber, Khaled R.

Publication type:

Article