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YM155 and chrysin cooperatively suppress survivin expression in SMARCB1/INI1-deficient tumor cells.
- Published in:
- 2022
- By:
- Publication type:
- journal article
Exome sequencing analysis of Japanese autism spectrum disorder case-control sample supports an increased burden of synaptic function-related genes.
- Published in:
- Translational Psychiatry, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41398-022-02033-6
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- Publication type:
- Article
Novel COL2A1 variants in Japanese patients with spondyloepiphyseal dysplasia congenita.
- Published in:
- Human Genome Variation, 2022, v. 9, n. 1, p. 1, doi. 10.1038/s41439-022-00193-x
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- Publication type:
- Article
Further delineation of SET‐related intellectual disability syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1595, doi. 10.1002/ajmg.a.62681
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- Publication type:
- Article
Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants.
- Published in:
- Genome Medicine, 2022, v. 14, n. 1, p. 1, doi. 10.1186/s13073-022-01042-w
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- Publication type:
- Article
Divergent variant patterns among 19 patients with Rubinstein‐Taybi syndrome uncovered by comprehensive genetic analysis including whole genome sequencing.
- Published in:
- Clinical Genetics, 2022, v. 101, n. 3, p. 335, doi. 10.1111/cge.14103
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- Publication type:
- Article
Comprehensive Genetic Analysis of Non-syndromic Autism Spectrum Disorder in Clinical Settings.
- Published in:
- Journal of Autism & Developmental Disorders, 2021, v. 51, n. 12, p. 4655, doi. 10.1007/s10803-021-04910-3
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- Publication type:
- Article
Multiple alterations in glutamatergic transmission and dopamine D2 receptor splicing in induced pluripotent stem cell-derived neurons from patients with familial schizophrenia.
- Published in:
- Translational Psychiatry, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41398-021-01676-1
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- Publication type:
- Article
Siblings with vascular Ehlers‐Danlos syndrome inherited via maternal mosaicism.
- Published in:
- Congenital Anomalies, 2021, v. 61, n. 3, p. 101, doi. 10.1111/cga.12408
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- Publication type:
- Article
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.
- Published in:
- Molecular Syndromology, 2021, v. 12, n. 2, p. 127, doi. 10.1159/000513224
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- Publication type:
- Article
A novel method for isolating lymphatic endothelial cells from lymphatic malformations and detecting PIK3CA somatic mutation in these isolated cells.
- Published in:
- Surgery Today, 2021, v. 51, n. 3, p. 439, doi. 10.1007/s00595-020-02122-3
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- Publication type:
- Article
Any modality of renal replacement therapy can be a treatment option for Joubert syndrome.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-020-80712-4
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- Publication type:
- Article
Update of the genotype and phenotype of KMT2D and KDM6A by genetic screening of 100 patients with clinically suspected Kabuki syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 10, p. 2333, doi. 10.1002/ajmg.a.61793
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- Publication type:
- Article
Cantú syndrome with novel pathogenic variant in nucleotide‐binding domain 1 of ABCC9.
- Published in:
- 2020
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- Publication type:
- Case Study
A recurrent PJA1 variant in trigonocephaly and neurodevelopmental disorders.
- Published in:
- Annals of Clinical & Translational Neurology, 2020, v. 7, n. 7, p. 1117, doi. 10.1002/acn3.51093
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- Publication type:
- Article
A female patient with X‐linked Ohdo syndrome of the Maat‐Kievit‐Brunner phenotype caused by a novel variant of MED12.
- Published in:
- Congenital Anomalies, 2020, v. 60, n. 3, p. 91, doi. 10.1111/cga.12350
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- Publication type:
- Article
An efficient genetic test flow for multiple congenital anomalies and intellectual disability.
- Published in:
- Pediatrics International, 2020, v. 62, n. 5, p. 556, doi. 10.1111/ped.14159
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- Publication type:
- Article
Novel CUL7 biallelic mutations alter the skeletal phenotype of 3M syndrome.
- Published in:
- Human Genome Variation, 2020, v. 7, n. 1, p. 1, doi. 10.1038/s41439-020-0090-6
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- Publication type:
- Article
Whole-exome sequencing reveals the subclonal expression of NUP214-ABL1 fusion gene in T-cell acute lymphoblastic leukemia.
- Published in:
- 2020
- By:
- Publication type:
- case study
Novel USP9X variants in two patients with X-linked intellectual disability.
- Published in:
- Human Genome Variation, 2019, v. 6, n. 1, p. N.PAG, doi. 10.1038/s41439-019-0081-7
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- Publication type:
- Article
Hemoglobin beta Kanagawa [c.443A>C; p.(Ter148Serext*21)]: A novel β-globin gene mutation causing dominantly inherited β-thalassemia.
- Published in:
- 2019
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- Publication type:
- case study
A severe form of Ellis-van Creveld syndrome caused by novel mutations in EVC2.
- Published in:
- Human Genome Variation, 2019, v. 6, n. 1, p. N.PAG, doi. 10.1038/s41439-019-0071-9
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- Publication type:
- Article
A novel gene (FAM20B encoding glycosaminoglycan xylosylkinase) for neonatal short limb dysplasia resembling Desbuquois dysplasia.
- Published in:
- Clinical Genetics, 2019, v. 95, n. 6, p. 713, doi. 10.1111/cge.13530
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- Publication type:
- Article
Discordant phenotype caused by CASK mutation in siblings with NF1.
- Published in:
- Human Genome Variation, 2019, v. 6, n. 1, p. N.PAG, doi. 10.1038/s41439-019-0051-0
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- Publication type:
- Article
Homozygous splicing mutation in NUP133 causes Galloway-Mowat syndrome.
- Published in:
- 2018
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- Publication type:
- journal article
Novel SYNGAP1 variant in a patient with intellectual disability and distinctive dysmorphisms.
- Published in:
- Congenital Anomalies, 2018, v. 58, n. 6, p. 188, doi. 10.1111/cga.12273
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- Publication type:
- Article
Novel AMER1 frameshift mutation in a girl with osteopathia striata with cranial sclerosis.
- Published in:
- Congenital Anomalies, 2018, v. 58, n. 4, p. 145, doi. 10.1111/cga.12258
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- Publication type:
- Article
Coffin‐Siris syndrome and cardiac anomaly with a novel SOX<italic>11</italic> mutation.
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- Congenital Anomalies, 2018, v. 58, n. 3, p. 105, doi. 10.1111/cga.12242
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- Publication type:
- Article
De novo hotspot variants in CYFIP2 cause early-onset epileptic encephalopathy.
- Published in:
- 2018
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- Publication type:
- journal article
Clinical features of SMARCA2 duplication overlap with Coffin-Siris syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 10, p. 2662, doi. 10.1002/ajmg.a.37778
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- Publication type:
- 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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- Publication type:
- Article
Somatic mutations in GLI3 and OFD1 involved in sonic hedgehog signaling cause hypothalamic hamartoma.
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- Annals of Clinical & Translational Neurology, 2016, v. 3, n. 5, p. 356, doi. 10.1002/acn3.300
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- Publication type:
- Article
De novo GABRA1 mutations in Ohtahara and West syndromes.
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- Epilepsia (Series 4), 2016, v. 57, n. 4, p. 566, doi. 10.1111/epi.13344
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- Publication type:
- Article
Dual genetic diagnoses: Atypical hand-foot-genital syndrome and developmental delay due to de novo mutations in HOXA13 and NRXN1.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 717, doi. 10.1002/ajmg.a.37478
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- Publication type:
- 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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- Publication type:
- Article
Detection of low-prevalence somatic TSC2 mutations in sporadic pulmonary lymphangioleiomyomatosis tissues by deep sequencing.
- Published in:
- Human Genetics, 2016, v. 135, n. 1, p. 61, doi. 10.1007/s00439-015-1611-0
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- Publication type:
- Article
Novel compound heterozygous LIAS mutations cause glycine encephalopathy.
- Published in:
- Journal of Human Genetics, 2015, v. 60, n. 10, p. 631, doi. 10.1038/jhg.2015.72
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- Publication type:
- Article
The diagnostic utility of exome sequencing in Joubert syndrome and related disorders.
- Published in:
- Journal of Human Genetics, 2015, v. 60, n. 10, p. 651, doi. 10.1038/jhg.2015.86
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- Publication type:
- Article
Somatic Mutations in the MTOR gene cause focal cortical dysplasia type IIb.
- Published in:
- Annals of Neurology, 2015, v. 78, n. 3, p. 375, doi. 10.1002/ana.24444
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- Publication type:
- Article
De novo KCNT1 mutations in early-onset epileptic encephalopathy.
- Published in:
- Epilepsia (Series 4), 2015, v. 56, n. 9, p. e121, doi. 10.1111/epi.13072
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- Publication type:
- Article
DNA methylation and gene expression dynamics during spermatogonial stem cell differentiation in the early postnatal mouse testis.
- Published in:
- BMC Genomics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12864-015-1833-5
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- Publication type:
- Article
DNA methylation and gene expression dynamics during spermatogonial stem cell differentiation in the early postnatal mouse testis.
- Published in:
- BMC Genomics, 2015, v. 16, n. 1, p. 624, doi. 10.1186/s12864-015-1833-5
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- Publication type:
- Article
GRIN1 mutations cause encephalopathy with infantile-onset epilepsy, and hyperkinetic and stereotyped movement disorders.
- Published in:
- Epilepsia (Series 4), 2015, v. 56, n. 6, p. 841, doi. 10.1111/epi.12987
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- Publication type:
- Article
A case of autism spectrum disorder arising from a de novo missense mutation in POGZ.
- Published in:
- Journal of Human Genetics, 2015, v. 60, n. 5, p. 277, doi. 10.1038/jhg.2015.13
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- Publication type:
- Article
Detecting copy-number variations in whole-exome sequencing data using the eXome Hidden Markov Model: an 'exome-first' approach.
- Published in:
- Journal of Human Genetics, 2015, v. 60, n. 4, p. 175, doi. 10.1038/jhg.2014.124
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- Publication type:
- Article
A Japanese case of cerebellar ataxia, spastic paraparesis and deep sensory impairment associated with a novel homozygous TTC19 mutation.
- Published in:
- Journal of Human Genetics, 2015, v. 60, n. 4, p. 187, doi. 10.1038/jhg.2015.7
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- Publication type:
- Article
Japanese familial case of myoclonus-dystonia syndrome with a splicing mutation in SGCE.
- Published in:
- Pediatrics International, 2015, v. 57, n. 2, p. 324, doi. 10.1111/ped.12613
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- Publication type:
- Article
Mutations in the glutaminyl-tRNA synthetase gene cause early-onset epileptic encephalopathy.
- Published in:
- Journal of Human Genetics, 2015, v. 60, n. 2, p. 97, doi. 10.1038/jhg.2014.103
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- Publication type:
- Article
Precise detection of chromosomal translocation or inversion breakpoints by whole-genome sequencing.
- Published in:
- Journal of Human Genetics, 2014, v. 59, n. 12, p. 649, doi. 10.1038/jhg.2014.88
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- Publication type:
- Article
Compound heterozygous BRAT1 mutations cause familial Ohtahara syndrome with hypertonia and microcephaly.
- Published in:
- Journal of Human Genetics, 2014, v. 59, n. 12, p. 687, doi. 10.1038/jhg.2014.91
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- Publication type:
- Article