Items where Author is "Ansar, M."
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(2025) Bi-allelic variants in BRF2 are associated with perinatal death and craniofacial anomalies. Genome medicine. p. 38. ISSN 1756-994X (Electronic) 1756-994X (Linking)
(2024) Biallelic variants in BRF2 are associated with craniofacial anomalies and cognitive impairment. European Journal of Human Genetics. p. 61. ISSN 1018-4813
(2024) Biallelic variants in BRF2 are associated with perinatal death and craniofacial anomalies. European Journal of Human Genetics. p. 1540. ISSN 1018-4813
(2024) ELFN1 deficiency is associated with an autosomal recessive neurodevelopmental disorder with epilepsy. European Journal of Human Genetics. pp. 1510-1511. ISSN 1018-4813