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AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS, ISSN 1552-4868, 08/2005, Volume 137C, Issue 1, pp. 1 - 3
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 12/2015, Volume 167, Issue 12, pp. 2869 - 2892
The purpose of the nosology is to serve as a "master" list of the genetic disorders of the skeleton to facilitate diagnosis and to help delineate variant or... 
nosology | molecular basis of disease | dwarfism | skeletal dysplasias | Dwarfism | Nosology | Molecular basis of disease | Skeletal dysplasias | NOMENCLATURE | GENETICS & HEREDITY | CONSTITUTIONAL DISORDERS | Bone Diseases - classification | Bone Diseases - genetics | Humans | Genetic Diseases, Inborn - classification | Index Medicus
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 2010, Volume 87, Issue 2, pp. 189 - 198
Journal Article
Journal Article
Revue du Rhumatisme monographies, ISSN 1878-6227, 04/2019, Volume 86, Issue 2, p. 144
Journal Article
American Journal of Medical Genetics. Part A, ISSN 1552-4825, 12/2013, Volume 161, Issue 12, pp. 2972 - 2980
textabstractWeaver syndrome, first described in 1974, is characterized by tall stature, a typical facial appearance, and variable intellectual disability. In... 
histone methyl transferases | Weaver syndrome | EZH2 | Histone methyl transferases | METHYLATION | LYSINE-27 | ANOMALIES | B-CELL LYMPHOMAS | NEUROBLASTOMA | AUTOSOMAL-DOMINANT INHERITANCE | OVERGROWTH | GENETICS & HEREDITY | CERVICAL-SPINE | GIRL | Developmental Disabilities | Polycomb Repressive Complex 2 - genetics | Humans | Child, Preschool | Intellectual Disability - complications | Male | Craniofacial Abnormalities - physiopathology | Intellectual Disability - genetics | Sotos Syndrome - physiopathology | Congenital Hypothyroidism - genetics | Female | Child | Abnormalities, Multiple - genetics | Craniofacial Abnormalities - complications | Craniofacial Abnormalities - genetics | Chromosome Deletion | Hand Deformities, Congenital - complications | Sotos Syndrome - genetics | Congenital Hypothyroidism - physiopathology | Abnormalities, Multiple - physiopathology | Enhancer of Zeste Homolog 2 Protein | Intellectual Disability - physiopathology | Phenotype | Hand Deformities, Congenital - genetics | Hand Deformities, Congenital - physiopathology | Adolescent | Mutation | Growth Disorders - genetics | Congenital Hypothyroidism - complications | Growth Disorders - complications | Growth Disorders - physiopathology | Hernia | Histones | Genetic aspects | Phenotypes | Camptodactyly | Missense mutation | Intellectual disabilities | Histone methyltransferase | Data processing | Skin | Index Medicus
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 05/2018, Volume 176, Issue 5, pp. 1091 - 1098
Corpus callosum (CC) is the major brain commissure connecting homologous areas of cerebral hemispheres. CC anomalies (CCAs) are the most frequent brain... 
IDENTITY | MICRODELETION | ABNORMALITIES | TRANSCRIPTION | AGENESIS | GENES | GENETICS & HEREDITY | PHENOTYPE | NEURONS | MEF2C HAPLOINSUFFICIENCY | FEATURES | Agenesis of Corpus Callosum - diagnosis | Calcinosis - genetics | Brain - diagnostic imaging | Calcinosis - diagnosis | Ear Diseases - genetics | Transcription Factors - chemistry | Humans | Male | Brain - abnormalities | Intellectual Disability - genetics | Nerve Tissue Proteins - chemistry | Agenesis of Corpus Callosum - genetics | Muscular Atrophy - diagnosis | Female | Nucleic Acid Conformation | Child | Abnormalities, Multiple - genetics | Infant, Newborn | Amino Acid Sequence | Reproducibility of Results | Muscular Atrophy - genetics | Transcription Factors - genetics | Nerve Tissue Proteins - genetics | Sequence Analysis, DNA | Ear Diseases - diagnosis | Phenotype | Pedigree | Abnormalities, Multiple - diagnosis | Intellectual Disability - diagnosis | Adolescent | Protein Conformation | High-Throughput Nucleotide Sequencing | Mutation | Genetic research | Medicine, Experimental | Medical research | Genetic aspects | DNA binding proteins | Analysis | Transcription | Fetuses | Cortex | Cerebral hemispheres | Homology | Corpus callosum | Gene silencing | Genetic counseling | Etiology | Autopsy | Children | Zinc finger proteins | Hippocampus | Brain commissures | Index Medicus | Life Sciences | Genetics | Human genetics
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 07/2019, Volume 179, Issue 7, pp. 1196 - 1204
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 12/2018, Volume 176, Issue 12, pp. 2595 - 2603
Journal Article