Showing results (1-10 of 21) with videos related to

Sort By:
Pageof 3
American Journal of Medical Genetics. Part A|February 14, 2006
Delineation of a 2.2 Mb microdeletion at 5q35 associated with microcephaly and congenital heart diseaseMarie Baekvad-Hansen, Zeynep Tümer, Alicia Delicado, et al.
European Journal of Medical Genetics|August 2, 2005
Beckwith-Wiedemann syndrome due to 11p15.5 paternal duplication associated with Klinefelter syndrome and a "de novo" pericentric inversion of chromosome YAlicia Delicado, Pablo Lapunzina, María Palomares, 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 A|September 16, 2004
Macrocephaly-cutis marmorata telangiectatica congenita: report of six new patients and a reviewPablo Lapunzina, Alba Gairí, Alicia Delicado, et al.
Human Genetics|June 20, 2006
Evidence for a new contiguous gene syndrome, the chromosome 16p13.3 deletion syndrome alias severe Rubinstein-Taybi syndromeOliver Bartsch, Sasan Rasi, Alicia Delicado, et al.
Clinical Dysmorphology|June 9, 2006
Mietens-Weber syndrome: two new patients and a reviewVíctor Martínez-Glez, Pablo Lapunzina, Alicia Delicado, et al.
American Journal of Medical Genetics. Part A|April 23, 2004
A prenatally diagnosed patient with full monosomy 21: ultrasound, cytogenetic, clinical, molecular, and necropsy findingsMaría A Mori, Pablo Lapunzina, Alicia Delicado, et al.
Molecular Diagnosis : a Journal Devoted to the Understanding of Human Disease Through the Clinical Application of Molecular Biology|October 29, 2003
Hyperekplexia (startle disease): a novel mutation (S270T) in the M2 domain of the GLRA1 gene and a molecular review of the disorderPablo Lapunzina, Juan M Sánchez, Marta Cabrera, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy|November 26, 2009
Prevention of senescence progression in reversibly immortalized human ensheathing glia permits their survival after deimmortalizationVega García-Escudero, Ana García-Gómez, Ricardo Gargini, et al.
Pageof 3