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Frontiers in Psychiatry|March 19, 2025
Phenotype and psychometric characterization of Phelan-McDermid syndrome patients: pioneering towards personalized medicineJulián Nevado, Filippo Ciceri, Cristina Bel-Fenellós, et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology|December 17, 2004
A novel insertion in the FGFR2 gene in a patient with Crouzon phenotype and sacrococcygeal tailPablo Lapunzina, Alejandra Fernández, Juan M Sánchez Romero, et al.
American Journal of Medical Genetics. Part A|May 13, 2005
Higher frequency of uncommon 1.5-2 Mb deletions found in familial cases of 22q11.2 deletion syndromeLuis Fernández, Pablo Lapunzina, Isidora López Pajares, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|May 17, 2021
The portrayal of dwarfism without skeletal dysplasia in art: Proportionate short stature due to growth hormone deficiency and other disordersPablo Lapunzina, Jair Tenorio-Castaño, Julián Nevado, et al.
Familial Cancer|October 8, 2016
TP53 and CDKN1A mutation analysis in families with Li-Fraumeni and Li-Fraumeni like syndromesRaissa Coelho Andrade, Anna Claudia Evangelista Dos Santos, Joaquim Caetano de Aguirre Neto, et al.
Clinical Genetics|January 13, 2019
Constitutional mosaicism in RASA1-related capillary malformation-arteriovenous malformationGema Gordo, Lara Rodriguez-Laguna, Noelia Agra, et al.
Trends in Molecular Medicine|September 29, 2014
CDKN1C mutations: two sides of the same coinThomas Eggermann, Gerhard Binder, Frédéric Brioude, et al.
European Journal of Medical Genetics|June 11, 2016
A novel SMARCAL1 missense mutation that affects splicing in a severely affected Schimke immunoosseous dysplasia patientJimena Barraza-García, Carlos I Rivera-Pedroza, Alberta Belinchón, et al.
Molecular Genetics & Genomic Medicine|June 14, 2020
Co-occurrence of neurofibromatosis type 1 and optic nerve gliomas with autosomal dominant polycystic kidney disease type 2Ramón Peces, Rocío Mena, Yolanda Martín, et al.
American Journal of Medical Genetics. Part A|September 16, 2004
Macrocephaly-cutis marmorata telangiectatica congenita: report of six new patients and a reviewPablo Lapunzina, Alba Gairí, Alicia Delicado, et al.
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