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European Journal of Human Genetics : EJHG
|
July 14, 2016
Novel microdeletions on chromosome 14q32.2 suggest a potential role for non-coding RNAs in Kagami-Ogata syndrome
Ilse M van der Werf, Karin Buiting, Christina Czeschik, et al.
American Journal of Medical Genetics. Part A
|
September 24, 2015
Nosology and classification of genetic skeletal disorders: 2015 revision
Luisa Bonafe, Valerie Cormier-Daire, Christine Hall, et al.
British Journal of Cancer
|
March 16, 2016
Long-term acquired everolimus resistance in pancreatic neuroendocrine tumours can be overcome with novel PI3K-AKT-mTOR inhibitors
Timon Vandamme, Matthias Beyens, Ken Op de Beeck, et al.
The Journal of Molecular Diagnostics : JMD
|
March 26, 2017
Targeted Next-Generation Sequencing of 51 Genes Involved in Primary Electrical Disease
Dorien Proost, Johan Saenen, Geert Vandeweyer, et al.
Journal of Medical Genetics
|
January 16, 2007
Osteopoikilosis, short stature and mental retardation as key features of a new microdeletion syndrome on 12q14
Björn Menten, Karen Buysse, Farah Zahir, et al.
Orphanet Journal of Rare Diseases
|
August 1, 2021
The first European consensus on principles of management for achondroplasia
Valerie Cormier-Daire, Moeenaldeen AlSayed, Tawfeg Ben-Omran, et al.
The Journal of Clinical Endocrinology and Metabolism
|
July 21, 2020
DNA Methylation Profiling and Genomic Analysis in 20 Children with Short Stature Who Were Born Small for Gestational Age
Silke Peeters, Ken Declerck, Muriel Thomas, et al.
Vaccine
|
September 13, 2018
Transcriptome profiling in blood before and after hepatitis B vaccination shows significant differences in gene expression between responders and non-responders
Esther Bartholomeus, Nicolas De Neuter, Pieter Meysman, et al.
European Journal of Human Genetics : EJHG
|
December 15, 2011
17q24.2 microdeletions: a new syndromal entity with intellectual disability, truncal obesity, mood swings and hallucinations
Sarah Vergult, Andrew Dauber, Barbara Delle Chiaie, et al.
American Journal of Medical Genetics. Part A
|
May 17, 2007
The PDAC syndrome (pulmonary hypoplasia/agenesis, diaphragmatic hernia/eventration, anophthalmia/microphthalmia, and cardiac defect) (Spear syndrome, Matthew-Wood syndrome): report of eight cases including a living child and further evidence for autosomal recessive inheritance
David Chitayat, Hana Sroka, Sarah Keating, et al.
Page
of 16
Search research articles
Search
Showing results (81-90 of 156) with videos related to
Sort By:
Page
of 16
European Journal of Human Genetics : EJHG
|
July 14, 2016
Novel microdeletions on chromosome 14q32.2 suggest a potential role for non-coding RNAs in Kagami-Ogata syndrome
Ilse M van der Werf, Karin Buiting, Christina Czeschik, et al.
American Journal of Medical Genetics. Part A
|
September 24, 2015
Nosology and classification of genetic skeletal disorders: 2015 revision
Luisa Bonafe, Valerie Cormier-Daire, Christine Hall, et al.
British Journal of Cancer
|
March 16, 2016
Long-term acquired everolimus resistance in pancreatic neuroendocrine tumours can be overcome with novel PI3K-AKT-mTOR inhibitors
Timon Vandamme, Matthias Beyens, Ken Op de Beeck, et al.
The Journal of Molecular Diagnostics : JMD
|
March 26, 2017
Targeted Next-Generation Sequencing of 51 Genes Involved in Primary Electrical Disease
Dorien Proost, Johan Saenen, Geert Vandeweyer, et al.
Journal of Medical Genetics
|
January 16, 2007
Osteopoikilosis, short stature and mental retardation as key features of a new microdeletion syndrome on 12q14
Björn Menten, Karen Buysse, Farah Zahir, et al.
Orphanet Journal of Rare Diseases
|
August 1, 2021
The first European consensus on principles of management for achondroplasia
Valerie Cormier-Daire, Moeenaldeen AlSayed, Tawfeg Ben-Omran, et al.
The Journal of Clinical Endocrinology and Metabolism
|
July 21, 2020
DNA Methylation Profiling and Genomic Analysis in 20 Children with Short Stature Who Were Born Small for Gestational Age
Silke Peeters, Ken Declerck, Muriel Thomas, et al.
Vaccine
|
September 13, 2018
Transcriptome profiling in blood before and after hepatitis B vaccination shows significant differences in gene expression between responders and non-responders
Esther Bartholomeus, Nicolas De Neuter, Pieter Meysman, et al.
European Journal of Human Genetics : EJHG
|
December 15, 2011
17q24.2 microdeletions: a new syndromal entity with intellectual disability, truncal obesity, mood swings and hallucinations
Sarah Vergult, Andrew Dauber, Barbara Delle Chiaie, et al.
American Journal of Medical Genetics. Part A
|
May 17, 2007
The PDAC syndrome (pulmonary hypoplasia/agenesis, diaphragmatic hernia/eventration, anophthalmia/microphthalmia, and cardiac defect) (Spear syndrome, Matthew-Wood syndrome): report of eight cases including a living child and further evidence for autosomal recessive inheritance
David Chitayat, Hana Sroka, Sarah Keating, et al.
Page
of 16