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Obesity, ISSN 1930-7381, 04/2015, Volume 23, Issue 4, pp. 746 - 749
Journal Article
Journal of Clinical Research in Pediatric Endocrinology, ISSN 1308-5727, 03/2017, Volume 9, Issue 1, p. 70
  --- What is already known on this topic? 3-beta hydroxysteroid dehydrogenase type II (3β-HSD2) deficiency is a rare form of congenital adrenal hyperplasia... 
Journal Article
Journal of Clinical Research in Pediatric Endocrinology, ISSN 1308-5727, 03/2017, Volume 9, Issue 1, pp. 70 - 73
Steroid 3-beta hydroxysteroid dehydrogenase type II (3?-HSD2) deficiency is a rare autosomal recessive form of congenital adrenal hyperplasia (CAH). We report... 
T?p
Journal Article
PLoS ONE, ISSN 1932-6203, 02/2013, Volume 8, Issue 2, p. e57460
Individuals with terminal and interstitial deletions of chromosome 1p36 have a spectrum of defects that includes eye anomalies, postnatal growth deficiency,... 
HEART | MENTAL-RETARDATION | GENE | RETINOIC ACID SYNTHESIS | SKI PROTOONCOGENE | MULTIDISCIPLINARY SCIENCES | MOUSE | CALRETININ IMMUNOREACTIVITY | DENTATE GYRUS | HISTONE DEACETYLASE | MONOSOMY 1P36 | Chromosome Deletion | Hippocampus - embryology | Mice, Inbred C57BL | Embryonic Development - genetics | Body Weight - drug effects | Repressor Proteins - genetics | Male | Hippocampus - drug effects | Body Weight - genetics | Cardiovascular Diseases - genetics | Nerve Tissue Proteins - genetics | Hearing Loss - genetics | Chromosomes - drug effects | Phenotype | Animals | Chromosomes - genetics | Alleles | Ethylnitrosourea | Mice | Chromosomes, Human, Pair 1 - genetics | Embryonic Development - drug effects | Neurons - drug effects | Abnormalities, Multiple - genetics | Chromosome Disorders - genetics | Embryonic development | Amino acids | Congenital heart disease | Seizures (Medicine) | Glutamate | Analysis | Heart | Glutamic acid | Brain | Pediatrics | Cardiomyopathy | Physicians | Genes | Cognitive ability | Otolaryngology | Ventricles (cerebral) | Arteries | Defects | Eye | Morphogenesis | Embryogenesis | Developmental stages | Arginine | Rodents | Genetics | Aorta | Heart diseases | Seizures | Hypoplasia | Kidneys | Organs | Hearing impairment | Chromosome 1 | Hearing loss | Embryonic growth stage | Medicine | Signaling | Ethyl nitrosourea | Acids | Cellular biology | Aortic arch | Fibrosis | Ear | Ventricle | Mutation | Auditory defects | Retinoic acid | Hippocampus | Kidney transplantation | Anomalies
Journal Article
Mitochondrion, ISSN 1567-7249, 07/2011, Volume 11, Issue 4, pp. 666 - 666
Journal Article
Mitochondrion, ISSN 1567-7249, 07/2011, Volume 11, Issue 4, pp. 661 - 661
Journal Article
Nature Medicine, ISSN 1078-8956, 12/2011, Volume 17, Issue 12, pp. 1619 - 1626
Journal Article
Genetics in Medicine, ISSN 1098-3600, 04/2016, Volume 18, Issue 4, pp. 414 - 415
Journal Article
Nature Genetics, ISSN 1061-4036, 02/2009, Volume 41, Issue 2, pp. 168 - 177
Journal Article
Genetics in medicine : official journal of the American College of Medical Genetics, ISSN 1098-3600, 06/2019
Propionic acidemia (PA) is a severe metabolic disorder characterized by multiorgan pathology, including renal disease. The prevalence of chronic kidney disease... 
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 10/2015, Volume 167, Issue 10, pp. 2459 - 2462
Terminal osseous dysplasia with pigmentary defects (TODPD) is a rare, X-linked syndrome classically characterized by distal limb anomalies, pigmented skin... 
filamin A | digital fibromas | TODPD | FLNA | terminal osseous dysplasia with pigmentary defects | anetoderma | elastin | oral frenulum | Filamin A | Anetoderma | Elastin | Digital fibromas | Oral frenulum | Terminal osseous dysplasia with pigmentary defects | DIGITAL FIBROMA | GENE | MUTATION | GENETICS & HEREDITY | GIRL | FILAMIN-A | Fibroma, Ossifying - genetics | Limb Deformities, Congenital - genetics | Osteochondrodysplasias - pathology | Humans | Genetic Diseases, X-Linked - complications | Pigmentation Disorders - complications | Pigmentation Disorders - pathology | Osteochondrodysplasias - genetics | Female | Genetic Diseases, X-Linked - genetics | Filamins - genetics | Toes - pathology | Fibroma, Ossifying - diagnosis | Fingers - abnormalities | Infant, Newborn | Anetoderma - genetics | Gene Expression | Pigmentation Disorders - diagnosis | Fibroma, Ossifying - pathology | Fingers - pathology | Osteochondrodysplasias - diagnosis | Anetoderma - diagnosis | Genetic Diseases, X-Linked - diagnosis | Pigmentation Disorders - genetics | Limb Deformities, Congenital - diagnosis | Genetic Diseases, X-Linked - pathology | Anetoderma - complications | Fibroma, Ossifying - complications | Limb Deformities, Congenital - complications | Mutation | Toes - abnormalities | Anetoderma - pathology | Karyotype | Limb Deformities, Congenital - pathology | Osteochondrodysplasias - complications | X Chromosome Inactivation | Dysplasia | Hypoplasia | Sex chromosomes | Biopsy | Skin diseases | Genetic screening | Defects | Fibers
Journal Article
Mitochondrion, ISSN 1567-7249, 03/2010, Volume 10, Issue 2, p. 232
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 12/2012, Volume 20, Issue 12, pp. 1240 - 1247
Copy number variants (CNVs) and intragenic rearrangements of the NRXN1 (neurexin 1) gene are associated with a wide spectrum of developmental and... 
epilepsy | neurexin 1 | macrocephaly | intellectual disability | genotype-phenotype correlation | BIOCHEMISTRY & MOLECULAR BIOLOGY | ALPHA-NEUREXINS | SCHIZOPHRENIA | CELL-ADHESION | NICOTINE DEPENDENCE | DISRUPTION | GENES | CNVS | GENETICS & HEREDITY | DISORDER | GENOME-WIDE | ASSOCIATION | Humans | Infant | Male | DNA Copy Number Variations | Intellectual Disability - genetics | Muscle Hypotonia - diagnosis | Microarray Analysis | Gene Deletion | Child Development Disorders, Pervasive - diagnosis | Adult | Female | Child | Abnormalities, Multiple - genetics | Muscle Hypotonia - genetics | Introns | Exons - genetics | Genotype | Nerve Tissue Proteins - genetics | Cell Adhesion Molecules, Neuronal - genetics | Muscle Hypotonia - congenital | Phenotype | Child Development Disorders, Pervasive - genetics | Abnormalities, Multiple - diagnosis | Intellectual Disability - diagnosis | Adolescent | Protein Isoforms - genetics | Pediatrics | Phenotypes | Congenital diseases | Mental disorders | Laboratories | Congenital defects | Intellectual disabilities | Copy number | Exons | Epilepsy | Genes | Schizophrenia | Genomes | Patients | Medicine | Autism | DNA microarrays | Genetics | Speech | Chromosomes | Genotypes | Nicotine | Head | speech | gene rearrangement | copy number | Mental retardation | Seizures | genotype–phenotype correlation
Journal Article