Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 2 (of 2 Records) |
Query Trace: Microcephalic Osteodysplastic Primordial Dwarfism Type 1[original query] |
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Microcephalic osteodysplastic primordial dwarfism type II: Additional nine patients with implications on phenotype and genotype correlation. American journal of medical genetics. Part A 2020 4 182 (6): 1407-1420. 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 |
Clinical relevance of targeted exome sequencing in patients with rare syndromic short stature. Orphanet journal of rare diseases 2021 7 16 (1): 297. Kamil Gilyazetdinov, Yoon Ju Young, Yoo Sukdong, Cheon Chong K |
- Page last reviewed:Feb 1, 2024
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