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Human Molecular Genetics, ISSN 0964-6906, 05/2018, Volume 27, Issue 10, pp. 1743 - 1753
Abstract LonP1 is a mitochondrial matrix protease whose selective substrate specificity is essential for maintaining mitochondrial homeostasis. Recessively... 
TRANSLOCATION | CODAS SYNDROME | DNA | SUBSTRATE | BIOCHEMISTRY & MOLECULAR BIOLOGY | COPY NUMBER | GENETICS & HEREDITY | DEGRADATION | MUTATIONS | TRANSCRIPTION FACTOR | BINDING | AAA PROTEASE | Hip Dislocation, Congenital - metabolism | ATP-Dependent Proteases - genetics | Tooth Abnormalities - physiopathology | Tooth Abnormalities - metabolism | Humans | Mitochondrial Diseases - metabolism | Infant | Male | Leigh Disease - metabolism | Mitochondrial Proteins - genetics | Craniofacial Abnormalities - physiopathology | Osteochondrodysplasias - genetics | Mitochondria - genetics | Craniofacial Abnormalities - metabolism | Eye Abnormalities - metabolism | Craniofacial Abnormalities - genetics | Leigh Disease - physiopathology | Mitochondrial Diseases - genetics | Cell Line | Tooth Abnormalities - genetics | Oxidative Phosphorylation | Hip Dislocation, Congenital - genetics | Mitochondria - pathology | Eye Abnormalities - genetics | Leigh Disease - genetics | Whole Exome Sequencing | Exome - genetics | Osteochondrodysplasias - physiopathology | Growth Disorders - metabolism | Biopsy | Muscle, Skeletal - physiopathology | Eye Abnormalities - physiopathology | Hip Dislocation, Congenital - physiopathology | Mutation | Growth Disorders - genetics | Mitochondrial Diseases - physiopathology | Growth Disorders - physiopathology | Osteochondrodysplasias - metabolism | Index Medicus | transcription factor | translocation | binding | degradation | aaa protease | Genetics & Heredity | Medicinsk genetik | Medical Genetics | Biochemistry & Molecular Biology | mutations | Biokemi och molekylärbiologi | codas syndrome | dna | Biochemistry and Molecular Biology | copy number | substrate
Journal Article
Genetics in Medicine, ISSN 1098-3600, 08/2017, Volume 19, Issue 8, pp. 875 - 882
Journal Article
Developmental Cell, ISSN 1534-5807, 11/2012, Volume 23, Issue 5, pp. 925 - 938
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 07/2011, Volume 121, Issue 7, pp. 2662 - 2667
Journal Article
Journal of Pediatric Gastroenterology and Nutrition, ISSN 0277-2116, 03/2018, Volume 66, Issue 3, pp. 428 - 435
Journal Article
Journal of Human Genetics, ISSN 1434-5161, 04/2017, Volume 62, Issue 4, pp. 465 - 471
Kaufman oculo-cerebro-facial syndrome (KOS) is caused by recessive UBE3B mutations and presents with microcephaly, ocular abnormalities, distinctive facial... 
BLEPHAROPHIMOSIS | LIGASE UBE3B | MUTATIONS | GENE | OCULOCEREBROFACIAL SYNDROME | GENETICS & HEREDITY | Eczema - diagnosis | Limb Deformities, Congenital - genetics | Eczema - genetics | Microcephaly - genetics | Face - abnormalities | Humans | Child, Preschool | Limb Deformities, Congenital - physiopathology | Male | Hand Deformities, Congenital - diagnosis | Intellectual Disability - genetics | Micrognathism - diagnosis | Facies | Adult | Female | Microcephaly - physiopathology | Child | Neck - physiopathology | Abnormalities, Multiple - genetics | Eczema - physiopathology | Micrognathism - physiopathology | Diagnosis, Differential | Eye Abnormalities - diagnosis | Micrognathism - genetics | Growth Disorders - diagnosis | Microcephaly - diagnosis | Neck - abnormalities | Eye Abnormalities - genetics | Sequence Analysis, DNA | Abnormalities, Multiple - physiopathology | Face - physiopathology | Intellectual Disability - physiopathology | Carrier Proteins - genetics | Limb Deformities, Congenital - diagnosis | Hand Deformities, Congenital - genetics | Hand Deformities, Congenital - physiopathology | Abnormalities, Multiple - diagnosis | Intellectual Disability - diagnosis | Eye Abnormalities - physiopathology | Mutation | Growth Disorders - genetics | Ubiquitin-Protein Ligases - genetics | Pathology, Molecular | Karyotype | Growth Disorders - physiopathology
Journal Article
Clinical Genetics, ISSN 0009-9163, 12/2016, Volume 90, Issue 6, pp. 526 - 535
Joubert syndrome ( JS ) is rare recessive disorders characterized by the combination of hypoplasia/aplasia of the cerebellar vermis, thickened and elongated... 
concomitant mutations | Whole‐exome sequencing | Japanese | Joubert syndrome | Whole-exome sequencing | FRENCH-CANADIANS | CILIOPATHIES | SYNDROME-RELATED DISORDERS | RPGRIP1L | CENTROSOMAL PROTEIN | TRANSITION ZONE | MECKEL-SYNDROME | GENETICS & HEREDITY | DIAGNOSTIC UTILITY | MUTATIONS | CILIOGENESIS | Japan - epidemiology | Eye Abnormalities - diagnostic imaging | Microtubule-Associated Proteins - genetics | Humans | Kidney Diseases, Cystic - diagnostic imaging | Male | Cerebellum - abnormalities | Cerebellum - diagnostic imaging | Abnormalities, Multiple - epidemiology | Kidney Diseases, Cystic - genetics | Female | Neoplasm Proteins - genetics | Abnormalities, Multiple - genetics | Kidney Diseases, Cystic - epidemiology | Antigens, Neoplasm - genetics | Kidney Diseases, Cystic - physiopathology | Genetic Predisposition to Disease | Membrane Proteins - genetics | Retina - physiopathology | Eye Abnormalities - epidemiology | Abnormalities, Multiple - diagnostic imaging | Cerebellum - physiopathology | Eye Abnormalities - genetics | Abnormalities, Multiple - physiopathology | Genetic Heterogeneity | Oman - epidemiology | Retina - diagnostic imaging | Pedigree | Adaptor Proteins, Signal Transducing - genetics | Alleles | Retina - abnormalities | Eye Abnormalities - physiopathology | Mutation | Genetic research | Family | Genetic aspects | Gene mutations | Index Medicus
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 05/2017, Volume 173, Issue 5, pp. 1237 - 1242
Journal Article
Journal Article
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 12/2016, Volume 170, Issue 12, pp. 3115 - 3124
Journal Article