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Human molecular genetics, ISSN 0964-6906, 05/2018, Volume 27, Issue 10, pp. 1743 - 1753
Biochemistry & Molecular Biology | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | 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 | Medicinsk genetik | Medical Genetics | mutations | Biokemi och molekylärbiologi | codas syndrome | dna | Biochemistry and Molecular Biology | copy number | substrate
Journal Article
Journal Article
Genetics in medicine, ISSN 1098-3600, 08/2017, Volume 19, Issue 8, pp. 875 - 882
Journal Article
Journal of human genetics, ISSN 1434-5161, 04/2017, Volume 62, Issue 4, pp. 465 - 471
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | 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 | Nerve Tissue Proteins | Neck - abnormalities | Eye Abnormalities - genetics | Sequence Analysis, DNA | Abnormalities, Multiple - physiopathology | Face - physiopathology | Intellectual Disability - physiopathology | Membrane Proteins | 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 | Index Medicus | small phalanges | UBE3B | Kaufman oculo-cerebro-facial syndrome | DOORS | whole exome sequencing
Journal Article
Journal Article
Annual review of genetics, ISSN 0066-4197, 11/2013, Volume 47, Issue 1, pp. 353 - 376
left-right asymmetry | zebrafish | polycystic kidney disease | intraflagellar transport | Joubert syndrome | heterotaxy | Heterotaxy | Zebrafish | Intraflagellar transport | Left-right asymmetry | Polycystic kidney disease | Cilia - physiology | Polycystic Kidney Diseases - genetics | Flagella - physiology | Ciliary Motility Disorders - physiopathology | Heterotaxy Syndrome - genetics | Heterotaxy Syndrome - physiopathology | Humans | Homeostasis | Polycystic Kidney, Autosomal Recessive - physiopathology | Cerebellum - abnormalities | Polycystic Kidney, Autosomal Recessive - genetics | Cerebellar Diseases - physiopathology | Polycystic Kidney Diseases - physiopathology | Retinitis Pigmentosa | Polycystic Kidney, Autosomal Dominant - genetics | Cilia - ultrastructure | Kidney Diseases, Cystic - genetics | Bardet-Biedl Syndrome - genetics | Disease Models, Animal | Encephalocele - genetics | Kidney Diseases, Cystic - physiopathology | Nervous System - cytology | Flagella - ultrastructure | Retina - physiopathology | Abnormalities, Multiple | Bardet-Biedl Syndrome - physiopathology | Eye Abnormalities - genetics | Encephalocele - physiopathology | Molecular Motor Proteins - physiology | Animals | Cerebellar Diseases - genetics | DNA Repair | Retina - abnormalities | Eye Abnormalities - physiopathology | Polycystic Kidney, Autosomal Dominant - physiopathology | DNA Damage | Kidney Diseases, Cystic - congenital | Cell Movement | Ciliary Motility Disorders - genetics | Physiological aspects | Amino acid sequence | Genetic aspects | Research | Cilia and ciliary motion | Proteins | Genetics | Biology | Cells | Index Medicus
Journal Article