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Nature, ISSN 0028-0836, 02/2013, Volume 494, Issue 7436, p. 157
  [...]he approached geneticists at Baylor College of Medicine in Houston, Texas, who discovered a mutation in Harrison's ASXL3 gene. 
Mutation
Journal Article
Science, ISSN 0036-8075, 2/2009, Volume 323, Issue 5918, pp. 1205 - 1208
Journal Article
Nature, ISSN 0028-0836, 05/2010, Volume 465, Issue 7295, pp. 223 - 226
Amyotrophic lateral sclerosis (ALS) has its onset in middle age and is a progressive disorder characterized by degeneration of motor neurons of the primary... 
OPEN-ANGLE GLAUCOMA | COMPLEX | PROTEIN | GENE | MULTIDISCIPLINARY SCIENCES | EXPRESSION | NEMO | MYOSIN-VI | Amyotrophic Lateral Sclerosis - physiopathology | Humans | Middle Aged | Transcription Factor TFIIIA - genetics | Cytoplasm - metabolism | Male | NF-kappa B - metabolism | Cytoplasm - pathology | Transcription Factor TFIIIA - metabolism | Mutation, Missense - genetics | DNA-Binding Proteins - metabolism | Young Adult | Base Sequence | Aged, 80 and over | Adult | Female | Child | Superoxide Dismutase - metabolism | NF-kappa B - agonists | Amino Acid Sequence | NF-kappa B - antagonists & inhibitors | Amyotrophic Lateral Sclerosis - genetics | Japan | Mutant Proteins - genetics | Transcription Factor TFIIIA - chemistry | Exons - genetics | Mutant Proteins - metabolism | Mutation - genetics | Transcription Factor TFIIIA - analysis | Protein Transport | Amyotrophic Lateral Sclerosis - pathology | Asian Continental Ancestry Group | Pedigree | Mutant Proteins - chemistry | Adolescent | Amyotrophic Lateral Sclerosis - metabolism | Polymorphism, Single Nucleotide - genetics | Aged | Consanguinity | Superoxide Dismutase-1 | Mutant Proteins - analysis | Codon, Nonsense - genetics | Sequence Deletion - genetics | Cellular proteins | Gene mutations | Physiological aspects | Amyotrophic lateral sclerosis | Genetic aspects | Research | Health aspects | Risk factors | Haplotypes | Studies | Genes | Genetics | Amino acids | Mutation | Family medical history | Chromosomes | Apoptosis | Index Medicus
Journal Article
Congenital Anomalies, ISSN 0914-3505, 05/2017, Volume 57, Issue 3, p. 83
  We report on a consanguineous family with three pregnancies affected with Fraser syndrome. We note severe brachydactyly is a manifestation of Fraser syndrome... 
Mutation
Journal Article
Revue Management & Avenir, ISSN 1768-5958, 11/2018, Issue 105, pp. 9 - 11
Journal Article
Human Genome Variation, ISSN 2054-345X, 12/2017, Volume 4, Issue 1, p. 17045
Mutations in KAT6A, encoding a member of the MYST family of histone acetyl-transferases, were recently reported in patients with a neurodevelopmental disorder... 
Mutation
Journal Article
Journal of Clinical Research in Pediatric Endocrinology, ISSN 1308-5727, 06/2017, Volume 9, Issue 1, p. 19
Persistent Müllerian duct syndrome (PMDS) is a rare form of male 46,XY disorder of sex development characterized by failure of Müllerian duct to regress in a... 
Mutation
Journal Article
Journal of Clinical Research in Pediatric Endocrinology, ISSN 1308-5727, 06/2017, Volume 9, Issue 1, p. 21
Smith-Lemli-Opitz syndrome (SLOS) is a rare autosomal recessive syndrome. It is one of the 46,XY disorders of sexual development. Molecular defects in DHCR7... 
Mutation
Journal Article
Journal of Clinical Research in Pediatric Endocrinology, ISSN 1308-5727, 06/2017, Volume 9, Issue 1, p. 13
The Schmid type of metaphyseal chondrodysplasia (MCDS) is characterized by short stature, widened growth plates, and bowing of the long bones, resulting from... 
Mutation
Journal Article
Journal of Clinical Research in Pediatric Endocrinology, ISSN 1308-5727, 06/2017, Volume 9, Issue 1, p. 20
Combined pituitary hormone deficiency (CPHD) is characterized by the impaired production of GH together with one or more of other pituitary hormones. The most... 
Mutation
Journal Article
Journal of Clinical Research in Pediatric Endocrinology, ISSN 1308-5727, 06/2017, Volume 9, Issue 1, p. 24
Langer mesomelic dysplasia (LMD; MIM 249700) is characterized by hypomelia with severe hypoplasia of ulnae and fibulae, and bowed, thickened radii and tibiae,... 
Mutation
Journal Article
Journal of Clinical Research in Pediatric Endocrinology, ISSN 1308-5727, 06/2017, Volume 9, Issue 1, p. 28
While PHEX gene mutation is the most common form of inherited rickets, limited data exist regarding genetic etiology of hypophosphatemic rickets in Turkey. The... 
Mutation
Journal Article
Nature Genetics, ISSN 1061-4036, 09/2012, Volume 44, Issue 9, pp. 1072 - 1072
  On p. 7 of the PDF the text has been corrected to state that "a few tumors had loss of both BAP1 and PBRM," whereas the text originally incorrectly cited... 
Mutation
Journal Article
Clinical Case Reports, 08/2018, Volume 6, Issue 8, pp. 1448 - 1451
Key Clinical MessageFew studies reported patients who harbored three kinds of primary tumors simultaneously. Here, we present a 9‐year‐old boy with colon... 
Mutation
Journal Article
Clinical Case Reports, 08/2018, Volume 6, Issue 8, pp. 1612 - 1617
Key Clinical MessageWe identified a novel heterozygous mutation (c.4177T>G and p.Cys1393Gly) in FBN2 that cosegregated with congenital contractural... 
Mutation
Journal Article
Congenital Anomalies, ISSN 0914-3505, 01/2017, Volume 57, Issue 1, p. 4
  Synpolydactyly (SPD) is an autosomal dominant limb malformation with a distinctive combination of syndactyly and polydactyly. SPD is clinically heterogeneous... 
Mutation
Journal Article
Clinical Case Reports, 07/2018, Volume 6, Issue 7, pp. 1358 - 1363
Key Clinical Message We present a patient with suspected Proteus Syndrome, an overgrowth disorder associated with AKT1c.49G>A mutation. NGS analysis detected... 
Mutation
Journal Article
Nature, ISSN 0028-0836, 2013, Volume 502, Issue 7471, pp. 333 - 339
Journal Article
Chinese Journal of Contemporary Neurology & Neurosurgery, ISSN 1672-6731, 01/2018, Volume 18, Issue 6, p. 418
Objective To investigate the clinicopathological and molecular genetic features of cortical tubers in tuberous sclerosis complex (TSC). Methods and Results Two... 
Mutation
Journal Article
Chinese Journal of Contemporary Neurology & Neurosurgery, ISSN 1672-6731, 01/2018, Volume 18, Issue 2, p. 123
Objective To summarize the features of clinical phenotype and genetic mutation of hereditary neuropathy with liability to pressure palsies (HNPP) presenting... 
Mutation
Journal Article
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