Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Marwan Nashabat, MD"'
Autor:
Nada Aljassim, MD, FCCP, Majid Alfadhel, MD, MHSc, SSC-Ped, ABHS(CH), FCCMG, Marwan Nashabat, MD, Wafa Eyaid, MD, FACMG
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 25, Iss , Pp 100644- (2020)
Methylenetetrahydrofolate reductase deficiency; MTHFR (MIM 236250) is widely studied with more than 200 reported cases up to our knowledge from pediatrics to adult patients. Clinical presentation of MTHFR deficiency has a wide spectrum and its severi
Externí odkaz:
https://doaj.org/article/5cda3eb5734c4231a82947d36fd9779c
Autor:
Majid Alfadhel MD, FCCMG, Marwan Nashabat MD, Khalid Hundallah MD, Amal Al Hashem MD, Ahmed Alrumayyan MD, Brahim Tabarki MD
Publikováno v:
Child Neurology Open, Vol 5 (2018)
PRUNE syndrome, or neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies (OMIM#617481), is a new rare autosomal recessive neurodevelopmental disease that is caused by homozygous or compound heterozygous mutation in PR
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doajarticles::bfb78e005d0c695e0af226cb3b802fe3
https://doaj.org/article/7972a0cafd2a4586a95c025daabb33e5
https://doaj.org/article/7972a0cafd2a4586a95c025daabb33e5