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Journal Article
Nature Communications, ISSN 2041-1723, 07/2016, Volume 7, Issue 1, pp. 11920 - 11920
Osteogenesis imperfecta (OI) is a collagen-related bone dysplasia. We identified an X-linked recessive form of OI caused by defects in MBTPS2, which encodes... 
TRANSCRIPTION FACTORS | COLLAGEN | OASIS | BONE-FORMATION | MULTIDISCIPLINARY SCIENCES | SITE-1 PROTEASE | IFAP SYNDROME | EXTRACELLULAR-MATRIX | ENDOPLASMIC-RETICULUM STRESS | CLEAVAGE | MISSENSE MUTATIONS | Index Medicus
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 02/2012, Volume 90, Issue 2, pp. 201 - 216
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 09/2014, Volume 95, Issue 3, pp. 285 - 293
Journal Article
Journal Article
Clinical Genetics, ISSN 0009-9163, 01/2019, Volume 95, Issue 1, pp. 182 - 186
MPV17 encodes a putative channel‐forming protein of the inner mitochondrial membrane and is involved in mitochondrial deoxynucleotide homeostasis. MPV17... 
NNH | MTDPS6 | MPV17 | axonal sensorimotor polyneuropathy | Navajo neurohepatopathy | mitochondrial DNA depletion syndrome 6 | NEUROHEPATOPATHY | NEUROPATHY | PROTEIN | GENETICS & HEREDITY | Liver diseases | Polyneuropathies | RNA | Liver | Genetic aspects | Mitochondrial DNA | Glutamine | Alternative splicing | Clonal deletion | Sensorimotor system | Homeostasis | Neuropathy | Mutation | Polyneuropathy
Journal Article
European Journal of Medical Genetics, ISSN 1769-7212, 11/2015, Volume 58, Issue 11, p. 603
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 02/2009, Volume 84, Issue 2, pp. 188 - 196
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 01/2013, Volume 21, Issue 1, pp. 55 - 61
Constitutional mismatch repair deficiency (CMMR-D) syndrome is a rare inherited childhood cancer predisposition caused by biallelic germline mutations in one... 
gray matter heterotopia | childhood cancer | agenesis of corpus callosum | biallelic germline mutation | constitutional mismatch repair deficiency syndrome | LYNCH-SYNDROME | BIOCHEMISTRY & MOLECULAR BIOLOGY | BIALLELIC MUTATIONS | PSEUDOGENE INTERFERENCE | MSH6 | GENE | PERIVENTRICULAR HETEROTOPIA | COLORECTAL-CANCER | GENETICS & HEREDITY | EARLY-ONSET | PMS2 | NEUROFIBROMATOSIS TYPE-1 | MutL Protein Homolog 1 | Contractile Proteins - genetics | Malformations of Cortical Development, Group II - pathology | Microsatellite Instability | Humans | DNA Repair Enzymes - genetics | Child, Preschool | DNA Repair-Deficiency Disorders - etiology | Male | Glioblastoma - genetics | Agenesis of Corpus Callosum - genetics | Parotid Neoplasms - therapy | Female | Mismatch Repair Endonuclease PMS2 | Nuclear Proteins - genetics | Child | Microfilament Proteins - genetics | Glioblastoma - diagnosis | DNA-Binding Proteins - genetics | Malformations of Cortical Development, Group II - genetics | Agenesis of Corpus Callosum - pathology | Syndrome | Filamins | Glioblastoma - therapy | Pregnancy | Parotid Neoplasms - complications | Parotid Neoplasms - diagnosis | Adaptor Proteins, Signal Transducing - genetics | Glioblastoma - complications | Adenosine Triphosphatases - genetics | Mutation | DNA Repair-Deficiency Disorders - genetics | Parotid Neoplasms - genetics | Neuroimaging | Pediatrics | Yeast | Congenital defects | Brain tumors | Brain cancer | Genes | Oncology | Malignancy | Birth | Substantia grisea | MSH6 protein | Mismatch repair | Diagnosis | Children | Hematology | MLH1 protein | MSH2 protein | Patients | Corpus callosum | Hospitals | Genetic recombination | Cancer | Tumors | Index Medicus
Journal Article
European Journal of Medical Genetics, ISSN 1769-7212, 2018
Ring chromosome 20 syndrome is a rare chromosomal disorder characterized by childhood-onset drug-resistant epilepsy, behavioral problems and variable cognitive... 
Ring formation | Ring chromosome 20 syndrome | Inherited mosaicism
Journal Article