Samia Ali Temtamy

Affiliations

Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.

Publications (9)

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

American journal of medical genetics. Part A

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

Cellular stress due to impairment of collagen prolyl hydroxylation complex is rescued by the chaperone 4-phenylbutyrate.

Disease models & mechanisms

Avec: Roberta Besio , Nadia Garibaldi , Laura Leoni , Lina Cipolla , Simone Sabbioneda , Marco Biggiogera , Monica Mottes , Mona Aglan , Ghada A Otaify , Samia A Temtamy , Antonio Rossi , Antonella Forlino

3D assessment of intervertebral disc degeneration in zebrafish identifies changes in bone density that prime disc disease.

Bone research

Avec: Erika Kague , Francesco Turci , Elis Newman , Yushi Yang , Kate Robson Brown , Mona S Aglan , Ghada A Otaify , Samia A Temtamy , Victor L Ruiz-Perez , Stephen Cross , C Patrick Royall , P Eckhard Witten , Chrissy L Hammond

Clinical and molecular characterization in a cohort of patients with progressive pseudorheumatoid dysplasia.

American journal of medical genetics. Part A

Avec: Dina El Dessouki , Khalda Amr , Naglaa Kholoussi , Hanaa M Rady , Manal M S Abdou , Mona Aglan

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

American journal of medical genetics. Part A

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

The Development of Human Genetics at the National Research Centre, Cairo, Egypt: A Story of 50 Years.

Annual review of genomics and human genetics

Avec: Samia A Temtamy

Expansion of the phenotypic and mutational spectrum of Carpenter syndrome.

European journal of medical genetics

Avec: Rabab Khairat , Rasha Elhossini , Nara Sobreira , Elizabeth Wohler , Ghada Otaify , Amal M Mohamed , Ehab R Abdel Raouf , Inas Sayed , Mona Aglan , Samira Ismail , Samia A Temtamy

Using Online Mendelian Inheritance in Man in low- and middle-income countries.

American journal of medical genetics. Part A

Avec: Nara Lygia de Macena Sobreira , Gabriela M Repetto , Samia A Temtamy , Ana Beatriz Alvarez Perez

Quaternary diagnostics scheme for mucolipidosis II and detection of novel mutation in GNPTAB gene.

Journal, genetic engineering & biotechnology

Avec: Mona L Essawi , Ekram M Fateen , Hanan A Atia , Noura R Eissa , Eman H Aboul-Ezz , Mona M Ibrahim , Heba A Hassan , Samia A Temtamy

Réseau de co-auteurs

Samia A Temtamy 8 collaborations

Ghada A Otaify 3 collaborations

Mona S Aglan 3 collaborations

Mona Aglan 3 collaborations

Mohamed S Abdel-Hamid 2 collaborations

Samira Ismail 2 collaborations

Maha S Zaki 2 collaborations

Ghada M H Abdel-Salam 2 collaborations

Mahmoud Y Issa 2 collaborations

Mohamed Abdel-Kader 1 collaboration

Marian Girgis 1 collaboration

Eman Aboul-Ezz 1 collaboration

Inas Mazen 1 collaboration

Roberta Besio 1 collaboration

Nadia Garibaldi 1 collaboration

Laura Leoni 1 collaboration

Lina Cipolla 1 collaboration

Simone Sabbioneda 1 collaboration

Marco Biggiogera 1 collaboration

Monica Mottes 1 collaboration

Antonio Rossi 1 collaboration

Antonella Forlino 1 collaboration

Erika Kague 1 collaboration

Francesco Turci 1 collaboration

Elis Newman 1 collaboration

Yushi Yang 1 collaboration

Kate Robson Brown 1 collaboration

Victor L Ruiz-Perez 1 collaboration

Stephen Cross 1 collaboration

C Patrick Royall 1 collaboration

P Eckhard Witten 1 collaboration

Chrissy L Hammond 1 collaboration

Dina El Dessouki 1 collaboration

Khalda Amr 1 collaboration

Naglaa Kholoussi 1 collaboration

Hanaa M Rady 1 collaboration

Manal M S Abdou 1 collaboration

Inas S M Sayed 1 collaboration

Hanan H Afifi 1 collaboration

Sherif F Abdel-Ghafar 1 collaboration

Maha R Abouzaid 1 collaboration

Samira I Ismail 1 collaboration

Hala T El-Bassyouni 1 collaboration

Ghada El-Kamah 1 collaboration

Laila K Effat 1 collaboration

Maha Eid 1 collaboration

Rabab Khairat 1 collaboration

Rasha Elhossini 1 collaboration

Nara Sobreira 1 collaboration

Elizabeth Wohler 1 collaboration

Ghada Otaify 1 collaboration

Amal M Mohamed 1 collaboration

Ehab R Abdel Raouf 1 collaboration

Inas Sayed 1 collaboration

Nara Lygia de Macena Sobreira 1 collaboration

Gabriela M Repetto 1 collaboration

Ana Beatriz Alvarez Perez 1 collaboration

Mona L Essawi 1 collaboration

Ekram M Fateen 1 collaboration

Hanan A Atia 1 collaboration

Noura R Eissa 1 collaboration

Eman H Aboul-Ezz 1 collaboration

Mona M Ibrahim 1 collaboration

Heba A Hassan 1 collaboration