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American Journal of Medical Genetics. Part A
|
December 21, 2018
Burkitt lymphoma in a patient with Kabuki syndrome carrying a novel KMT2D mutation
Emmanuel de Billy, Luisa Strocchio, Antonella Cacchione, et al.
BMC Pediatrics
|
March 14, 2020
Co-occurrence of mutations in KIF7 and KIAA0556 in Joubert syndrome with ocular coloboma, pituitary malformation and growth hormone deficiency: a case report and literature review
Marcello Niceta, Maria Lisa Dentici, Andrea Ciolfi, et al.
Schizophrenia Research
|
May 26, 2012
Adolescents at ultra-high risk for psychosis with and without 22q11 deletion syndrome: a comparison of prodromal psychotic symptoms and general functioning
Marco Armando, Paolo Girardi, Stefano Vicari, et al.
European Journal of Human Genetics : EJHG
|
January 22, 2009
Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype-phenotype correlations
Maria Lisa Dentici, Anna Sarkozy, Francesca Pantaleoni, et al.
American Journal of Medical Genetics. Part A
|
March 21, 2024
Clinical and molecular cytogenetic studies of five new patients with 20q11q12 deletion and review of the literature: Proposition of two critical regions
Souad Bensaid, Malika Bendahmane, Sara Loddo, et al.
American Journal of Medical Genetics. Part A
|
April 25, 2025
Phenotypic Characterization of Seven Pediatric Patients Diagnosed With KAT6B-Related Disorders: Case Series and Review of the Literature
Vittorio Maglione, Antonio Pizzuti, Gioia Mastromoro, et al.
Journal of Cardiovascular Development and Disease
|
November 25, 2021
1p36 Deletion Syndrome and the Aorta: A Report of Three New Patients and a Literature Review
Valentina Lodato, Valeria Orlando, Viola Alesi, et al.
American Journal of Medical Genetics. Part A
|
August 5, 2011
Ebstein anomaly: Genetic heterogeneity and association with microdeletions 1p36 and 8p23.1
Maria Cristina Digilio, Laura Bernardini, Francesca Lepri, et al.
BMC Medical Genetics
|
September 6, 2015
Spinal ependymoma in a patient with Kabuki syndrome: a case report
Davide Roma, Paolo Palma, Rossella Capolino, et al.
Genes
|
September 27, 2025
Congenital Diaphragmatic Hernia and Joint Laxity: A Putative Link with Heritable Connective Tissue Disorders
Alessandra Di Pede, Monia Magliozzi, Laura Valfré, et al.
Page
of 21
Search research articles
Search
Showing results (101-110 of 206) with videos related to
Sort By:
Page
of 21
American Journal of Medical Genetics. Part A
|
December 21, 2018
Burkitt lymphoma in a patient with Kabuki syndrome carrying a novel KMT2D mutation
Emmanuel de Billy, Luisa Strocchio, Antonella Cacchione, et al.
BMC Pediatrics
|
March 14, 2020
Co-occurrence of mutations in KIF7 and KIAA0556 in Joubert syndrome with ocular coloboma, pituitary malformation and growth hormone deficiency: a case report and literature review
Marcello Niceta, Maria Lisa Dentici, Andrea Ciolfi, et al.
Schizophrenia Research
|
May 26, 2012
Adolescents at ultra-high risk for psychosis with and without 22q11 deletion syndrome: a comparison of prodromal psychotic symptoms and general functioning
Marco Armando, Paolo Girardi, Stefano Vicari, et al.
European Journal of Human Genetics : EJHG
|
January 22, 2009
Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype-phenotype correlations
Maria Lisa Dentici, Anna Sarkozy, Francesca Pantaleoni, et al.
American Journal of Medical Genetics. Part A
|
March 21, 2024
Clinical and molecular cytogenetic studies of five new patients with 20q11q12 deletion and review of the literature: Proposition of two critical regions
Souad Bensaid, Malika Bendahmane, Sara Loddo, et al.
American Journal of Medical Genetics. Part A
|
April 25, 2025
Phenotypic Characterization of Seven Pediatric Patients Diagnosed With KAT6B-Related Disorders: Case Series and Review of the Literature
Vittorio Maglione, Antonio Pizzuti, Gioia Mastromoro, et al.
Journal of Cardiovascular Development and Disease
|
November 25, 2021
1p36 Deletion Syndrome and the Aorta: A Report of Three New Patients and a Literature Review
Valentina Lodato, Valeria Orlando, Viola Alesi, et al.
American Journal of Medical Genetics. Part A
|
August 5, 2011
Ebstein anomaly: Genetic heterogeneity and association with microdeletions 1p36 and 8p23.1
Maria Cristina Digilio, Laura Bernardini, Francesca Lepri, et al.
BMC Medical Genetics
|
September 6, 2015
Spinal ependymoma in a patient with Kabuki syndrome: a case report
Davide Roma, Paolo Palma, Rossella Capolino, et al.
Genes
|
September 27, 2025
Congenital Diaphragmatic Hernia and Joint Laxity: A Putative Link with Heritable Connective Tissue Disorders
Alessandra Di Pede, Monia Magliozzi, Laura Valfré, et al.
Page
of 21