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Clinical Biochemistry|September 11, 2007

Creatine transporter deficiency: prevalence among patients with mental retardation and pitfalls in metabolite screeningAngela Arias, Marc Corbella, Carmen Fons, et al.

Orphanet Journal of Rare Diseases|October 28, 2015

Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessmentMercedes Serrano, Víctor de Diego, Jordi Muchart, et al.

Human Genetics|November 20, 2014

Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?Marta Romani, Francesca Mancini, Alessia Micalizzi, et al.

Human Mutation|February 20, 2013

Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndromeMark T Handley, Deborah J Morris-Rosendahl, Stephen Brown, et al.

Pageof 2

Search research articles

Showing results (11-20 of 14) with videos related to

Sort By:

Pageof 2

You have reached the last page of results.This site can display upto 14 results.

Clinical Biochemistry|September 11, 2007

Creatine transporter deficiency: prevalence among patients with mental retardation and pitfalls in metabolite screeningAngela Arias, Marc Corbella, Carmen Fons, et al.

Orphanet Journal of Rare Diseases|October 28, 2015

Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessmentMercedes Serrano, Víctor de Diego, Jordi Muchart, et al.

Human Genetics|November 20, 2014

Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?Marta Romani, Francesca Mancini, Alessia Micalizzi, et al.

Human Mutation|February 20, 2013

Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndromeMark T Handley, Deborah J Morris-Rosendahl, Stephen Brown, et al.

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