Filtros de búsqueda

Lista de obras de

A Novel Syndrome With Short Stature, Mandibular Hypoplasia, and Osteoporosis May Be Associated With a PRRT3 Variant

scientific article published on 08 July 2020

A novel autosomal recessive lipodystrophy syndrome due to homozygous LMNA variant

artículo científico publicado en 2019

Clinical review#: Lipodystrophies: genetic and acquired body fat disorders ⬇️

artículo científico publicado el 24 de agosto de 2011

Efficacy and Safety of Metreleptin Therapy in Patients With Type 1 Diabetes: A Pilot Study.

artículo científico publicado en 2017

Juvenile-onset generalized lipodystrophy due to a novel heterozygous missense LMNA mutation affecting lamin C.

artículo científico publicado en 2017

LMNA mutations in atypical Werner's syndrome

artículo científico publicado en 2003

Molecular Characterization of Familial Hypercholesterolemia in a North American Cohort

scientific article published on 29 November 2019

Multisystem Progeroid Syndrome With Lipodystrophy, Cardiomyopathy, and Nephropathy Due to an LMNA p.R349W Variant

scientific article published on 27 July 2020

Partial lipodystrophy and insulin resistant diabetes in a patient with a homozygous nonsense mutation in CIDEC

artículo científico publicado en 2009

Phenotypic differences among Familial Partial Lipodystrophy due to <i>LMNA</i> or <i>PPARG</i> variants

artículo científico publicado en 2022

The lipodystrophy protein seipin is found at endoplasmic reticulum lipid droplet junctions and is important for droplet morphology

artículo científico publicado en 2007

Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia

artículo científico publicado en 2003

Dominio Público Uruguay está sostenido por:

Acerca de Dominio Público Uruguay

Ayuda