Filtros de búsqueda

Lista de obras de

Adult Chinese twins with Kenny-Caffey syndrome type 2: A potential age-dependent phenotype and review of literature

artículo científico publicado en 2020

Adult Prader-Willi Syndrome: An Update on Management.

artículo científico publicado en 2016

CHARGE syndrome in nine patients from China

scientific article published on 15 November 2019

Clinical and molecular characterization study of Chinese Kabuki syndrome in Hong Kong

artículo científico publicado en 2020

Coffin-Lowry syndrome in Chinese

artículo científico publicado en 2019

Congenital titinopathy: Comprehensive characterisation and pathogenic insights

artículo científico publicado en 2018

Evolving clinical manifestations of mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome: From infancy to adulthood in a 31-year-old woman

artículo científico publicado en 2020

HIST1H1E heterozygous protein-truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individuals

scientific article published on 09 August 2019

Mosaic KRAS mutation in a patient with encephalocraniocutaneous lipomatosis and renovascular hypertension

artículo científico publicado en 2018

Phenotypic and mutational spectrum of 21 Chinese patients with Alström syndrome

scientific article published on 22 November 2019

Prenatal and postnatal diagnosis of Schuurs-Hoeijmakers syndrome: Case series and review of the literature

artículo científico publicado en 2020

Rubinstein-Taybi syndrome in Chinese population with four novel mutations

artículo científico publicado en 2020

Rubinstein-Taybi syndrome in diverse populations

scientific article published on 27 September 2020

Williams–Beuren syndrome in diverse populations

artículo científico publicado en 2018

Dominio Público Uruguay está sostenido por:

Acerca de Dominio Público Uruguay

Ayuda