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1.
Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia.
Am J Hum Genet
; 108(12): 2368-2384, 2021 12 02.
Article
in English
| MEDLINE | ID: mdl-34800363
2.
Biotinidase deficiency: Spectrum of molecular, enzymatic and clinical information from newborn screening Ontario, Canada (2007-2014).
Mol Genet Metab
; 116(3): 146-51, 2015 Nov.
Article
in English
| MEDLINE | ID: mdl-26361991
3.
Parental psychosocial aspects and stressors involved in the management of inborn errors of metabolism.
Mol Genet Metab Rep
; 25: 100654, 2020 Dec.
Article
in English
| MEDLINE | ID: mdl-33042776
4.
Psychosocial impact on mothers receiving expanded newborn screening results.
Eur J Hum Genet
; 26(4): 477-484, 2018 04.
Article
in English
| MEDLINE | ID: mdl-29379194
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