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A Recurrent Variant in POLR1B, c.3007C>T; p.Arg1003Cys, Associated with Atresia of the External Canal and Microtia in Treacher Collins Syndrome Type 4.
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- Molecular Syndromology, 2021, v. 12, n. 2, p. 127, doi. 10.1159/000513224
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- Article
De novo DNM1 mutations in two cases of epileptic encephalopathy.
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- Epilepsia (Series 4), 2016, v. 57, n. 1, p. e18, doi. 10.1111/epi.13257
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- Article
De novo KCNT1 mutations in early-onset epileptic encephalopathy.
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- Epilepsia (Series 4), 2015, v. 56, n. 9, p. e121, doi. 10.1111/epi.13072
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- Article
GRIN1 mutations cause encephalopathy with infantile-onset epilepsy, and hyperkinetic and stereotyped movement disorders.
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- Epilepsia (Series 4), 2015, v. 56, n. 6, p. 841, doi. 10.1111/epi.12987
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- Article
Early onset epileptic encephalopathy caused by de novo SCN8A mutations.
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- Epilepsia (Series 4), 2014, v. 55, n. 7, p. 994, doi. 10.1111/epi.12668
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- Article
PIGO mutations in intractable epilepsy and severe developmental delay with mild elevation of alkaline phosphatase levels.
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- Epilepsia (Series 4), 2014, v. 55, n. 2, p. e13, doi. 10.1111/epi.12508
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- Article
CASK aberrations in male patients with Ohtahara syndrome and cerebellar hypoplasia.
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- Epilepsia (Series 4), 2012, v. 53, n. 8, p. 1441, doi. 10.1111/j.1528-1167.2012.03548.x
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- Article
Cantú syndrome with novel pathogenic variant in nucleotide‐binding domain 1 of ABCC9.
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- 2020
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- Case Study
An efficient genetic test flow for multiple congenital anomalies and intellectual disability.
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- Pediatrics International, 2020, v. 62, n. 5, p. 556, doi. 10.1111/ped.14159
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- Article
Japanese familial case of myoclonus-dystonia syndrome with a splicing mutation in SGCE.
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- Pediatrics International, 2015, v. 57, n. 2, p. 324, doi. 10.1111/ped.12613
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- Article
The diagnostic utility of exome sequencing in Joubert syndrome and related disorders.
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- Journal of Human Genetics, 2015, v. 60, n. 10, p. 651, doi. 10.1038/jhg.2015.86
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- Article
Novel compound heterozygous LIAS mutations cause glycine encephalopathy.
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- Journal of Human Genetics, 2015, v. 60, n. 10, p. 631, doi. 10.1038/jhg.2015.72
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- Article
A case of autism spectrum disorder arising from a de novo missense mutation in POGZ.
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- Journal of Human Genetics, 2015, v. 60, n. 5, p. 277, doi. 10.1038/jhg.2015.13
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- Article
A Japanese case of cerebellar ataxia, spastic paraparesis and deep sensory impairment associated with a novel homozygous TTC19 mutation.
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- Journal of Human Genetics, 2015, v. 60, n. 4, p. 187, doi. 10.1038/jhg.2015.7
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- Article
Detecting copy-number variations in whole-exome sequencing data using the eXome Hidden Markov Model: an 'exome-first' approach.
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- Journal of Human Genetics, 2015, v. 60, n. 4, p. 175, doi. 10.1038/jhg.2014.124
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- Article
Mutations in the glutaminyl-tRNA synthetase gene cause early-onset epileptic encephalopathy.
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- Journal of Human Genetics, 2015, v. 60, n. 2, p. 97, doi. 10.1038/jhg.2014.103
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- Article
Precise detection of chromosomal translocation or inversion breakpoints by whole-genome sequencing.
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- Journal of Human Genetics, 2014, v. 59, n. 12, p. 649, doi. 10.1038/jhg.2014.88
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- Article
Compound heterozygous BRAT1 mutations cause familial Ohtahara syndrome with hypertonia and microcephaly.
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- Journal of Human Genetics, 2014, v. 59, n. 12, p. 687, doi. 10.1038/jhg.2014.91
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- Article
The somatic GNAQ mutation c.548G>A (p.R183Q) is consistently found in Sturge-Weber syndrome.
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- Journal of Human Genetics, 2014, v. 59, n. 12, p. 691, doi. 10.1038/jhg.2014.95
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- Article
'Cortical cerebellar atrophy' dwindles away in the era of next-generation sequencing.
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- Journal of Human Genetics, 2014, v. 59, n. 10, p. 589, doi. 10.1038/jhg.2014.75
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- Article
A girl with West syndrome and autistic features harboring a de novo TBL1XR1 mutation.
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- Journal of Human Genetics, 2014, v. 59, n. 10, p. 581, doi. 10.1038/jhg.2014.71
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- Article
Causative novel PNKP mutations and concomitant PCDH15 mutations in a patient with microcephaly with early-onset seizures and developmental delay syndrome and hearing loss.
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- Journal of Human Genetics, 2014, v. 59, n. 8, p. 471, doi. 10.1038/jhg.2014.51
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- Article
De novo WDR45 mutation in a patient showing clinically Rett syndrome with childhood iron deposition in brain.
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- Journal of Human Genetics, 2014, v. 59, n. 5, p. 292, doi. 10.1038/jhg.2014.18
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- Article
A novel homozygous YARS2 mutation causes severe myopathy, lactic acidosis, and sideroblastic anemia 2.
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- Journal of Human Genetics, 2014, v. 59, n. 4, p. 229, doi. 10.1038/jhg.2013.143
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- Article
Novel FIG4 mutations in Yunis-Varon syndrome.
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- Journal of Human Genetics, 2013, v. 58, n. 12, p. 822, doi. 10.1038/jhg.2013.104
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- Article
Exome sequencing identifies a novel INPPL1 mutation in opsismodysplasia.
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- Journal of Human Genetics, 2013, v. 58, n. 6, p. 391, doi. 10.1038/jhg.2013.25
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- Article
The diagnostic utility of exome sequencing in Joubert syndrome and related disorders.
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- Journal of Human Genetics, 2013, v. 58, n. 2, p. 113, doi. 10.1038/jhg.2012.117
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- Article
A family of oculofaciocardiodental syndrome (OFCD) with a novel BCOR mutation and genomic rearrangements involving NHS.
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- Journal of Human Genetics, 2012, v. 57, n. 3, p. 197, doi. 10.1038/jhg.2012.4
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- Article
Missense mutations in the DNA-binding/dimerization domain of NFIX cause Sotos-like features.
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- Journal of Human Genetics, 2012, v. 57, n. 3, p. 207, doi. 10.1038/jhg.2012.7
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- Article
Breakpoint determination of X;autosome balanced translocations in four patients with premature ovarian failure.
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- Journal of Human Genetics, 2011, v. 56, n. 2, p. 156, doi. 10.1038/jhg.2010.155
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- Article
De novo 19q13.42 duplications involving NLRP gene cluster in a patient with systemic-onset juvenile idiopathic arthritis.
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- Journal of Human Genetics, 2011, v. 56, n. 5, p. 343, doi. 10.1038/jhg.2011.16
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- Article
Numerous BAF complex genes are mutated in Coffin-Siris syndrome.
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- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2014, v. 166C, n. 3, p. 257, doi. 10.1002/ajmg.c.31406
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- Article
Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants.
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- Genome Medicine, 2022, v. 14, n. 1, p. 1, doi. 10.1186/s13073-022-01042-w
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- Article
Further delineation of SET‐related intellectual disability syndrome.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1595, doi. 10.1002/ajmg.a.62681
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- Article
Update of the genotype and phenotype of KMT2D and KDM6A by genetic screening of 100 patients with clinically suspected Kabuki syndrome.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 10, p. 2333, doi. 10.1002/ajmg.a.61793
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- Article
Clinical features of SMARCA2 duplication overlap with Coffin-Siris syndrome.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 10, p. 2662, doi. 10.1002/ajmg.a.37778
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- Article
SMARCE1, a rare cause of Coffin-Siris Syndrome: Clinical description of three additional cases.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 8, p. 1967, doi. 10.1002/ajmg.a.37722
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- Article
Dual genetic diagnoses: Atypical hand-foot-genital syndrome and developmental delay due to de novo mutations in HOXA13 and NRXN1.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 717, doi. 10.1002/ajmg.a.37478
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- Article
Severe manifestations of hand-foot-genital syndrome associated with a novel HOXA13 mutation.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 9, p. 2398, doi. 10.1002/ajmg.a.36648
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- Article
A de novo 1.4-Mb deletion at 21q22.11 in a boy with developmental delay.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 4, p. 1021, doi. 10.1002/ajmg.a.36377
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- Article
A novel WTX mutation in a female patient with osteopathia striata with cranial sclerosis and hepatoblastoma.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 4, p. 998, doi. 10.1002/ajmg.a.36369
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- Article
Aortic aneurysm and craniosynostosis in a family with Cantu syndrome.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 1, p. 231, doi. 10.1002/ajmg.a.36228
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- Article
Co-occurrence of 22q11 deletion syndrome and hdr syndrome.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2576, doi. 10.1002/ajmg.a.36083
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- Article
A unique case of de novo 5q33.3-q34 triplication with uniparental isodisomy of 5q34-qter.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. 1904, doi. 10.1002/ajmg.a.36026
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- Article
Whole-exome sequencing identified a homozygous FNBP4 mutation in a family with a condition similar to microphthalmia with limb anomalies.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 7, p. 1543, doi. 10.1002/ajmg.a.35983
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- Article
Clinical correlations of mutations affecting six components of the SWI/ SNF complex: Detailed description of 21 patients and a review of the literature.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 6, p. 1221, doi. 10.1002/ajmg.a.35933
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- Article
Early infantile epileptic encephalopathy associated with the disrupted gene encoding Slit-Robo Rho GTPase activating protein 2 ( SRGAP2).
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 1, p. 199, doi. 10.1002/ajmg.a.34363
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- Article
De novo 5q14.3 translocation 121.5-kb upstream of MEF2C in a patient with severe intellectual disability and early-onset epileptic encephalopathy.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 11, p. 2879, doi. 10.1002/ajmg.a.34289
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- Article
De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood.
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- Nature Genetics, 2013, v. 45, n. 4, p. 445, doi. 10.1038/ng.2562
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- Article
Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.
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- Nature Genetics, 2012, v. 44, n. 4, p. 376, doi. 10.1038/ng.2219
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- Article