Found: 64
Select item for more details and to access through your institution.
An Infant with MLH3 Variants, FOXG1-Duplication and Multiple, Benign Cranial and Spinal Tumors: A Clinical Exome Sequencing Study.
- Published in:
- Genes, Chromosomes & Cancer, 2016, v. 55, n. 2, p. 131, doi. 10.1002/gcc.22319
- By:
- Publication type:
- Article
Sequence variant in the laminin γ1 ( LAMC1) gene associated with familial pelvic organ prolapse.
- Published in:
- Human Genetics, 2007, v. 120, n. 6, p. 847, doi. 10.1007/s00439-006-0267-1
- By:
- Publication type:
- Article
Myopathy associated with homozygous PYROXD1 pathogenic variants detected by genome sequencing.
- Published in:
- Neuropathology, 2020, v. 40, n. 3, p. 302, doi. 10.1111/neup.12641
- By:
- Publication type:
- Article
Whole exome sequencing in Serbian patients with hereditary spastic paraplegia.
- Published in:
- Neurogenetics, 2024, v. 25, n. 3, p. 165, doi. 10.1007/s10048-024-00755-x
- By:
- Publication type:
- Article
Association of progesterone receptor with migraine-associated vertigo.
- Published in:
- Neurogenetics, 2007, v. 8, n. 3, p. 195, doi. 10.1007/s10048-007-0091-3
- By:
- Publication type:
- Article
High prevalence of ALPK3 premature terminating variants in Korean hypertrophic cardiomyopathy patients.
- Published in:
- Frontiers in Cardiovascular Medicine, 2024, p. 1, doi. 10.3389/fcvm.2024.1424551
- By:
- Publication type:
- Article
Exome sequencing identifies de novo gain of function missense mutation in KCND2 in identical twins with autism and seizures that slows potassium channel inactivation.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 13, p. 3481, doi. 10.1093/hmg/ddu056
- By:
- Publication type:
- Article
A genome-wide linkage scan of familial benign recurrent vertigo: linkage to 22q12 with evidence of heterogeneity.
- Published in:
- Human Molecular Genetics, 2006, v. 15, n. 2, p. 251, doi. 10.1093/hmg/ddi441
- By:
- Publication type:
- Article
The PTH/PTHrP-SIK3 pathway affects skeletogenesis through altered mTOR signaling.
- Published in:
- Science Translational Medicine, 2018, v. 10, n. 459, p. 1, doi. 10.1126/scitranslmed.aat9356
- By:
- Publication type:
- Article
Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders.
- Published in:
- JAMA: Journal of the American Medical Association, 2014, v. 312, n. 18, p. 1880, doi. 10.1001/jama.2014.14604
- By:
- Publication type:
- Article
DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 11, p. 1473, doi. 10.1038/ejhg.2015.71
- By:
- Publication type:
- Article
Phenotypic and Genetic Analysis of a Large Family With Migraine-Associated Vertigo.
- Published in:
- Headache: The Journal of Head & Face Pain, 2008, v. 48, n. 10, p. 1460, doi. 10.1111/j.1526-4610.2007.01002.x
- By:
- Publication type:
- Article
Truncating mutations in APP cause a distinct neurological phenotype.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Congenital Stationary Night Blindness: Clinical and Genetic Features.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 23, p. 14965, doi. 10.3390/ijms232314965
- By:
- Publication type:
- Article
Improving the efficiency of genomic loci capture usingoligonucleotide arrays for high throughput resequencing.
- Published in:
- BMC Genomics, 2009, v. 10, p. 646, doi. 10.1186/1471-2164-10-646
- By:
- Publication type:
- Article
Melanomas acquire resistance to B-RAF(V600E) inhibition by RTK or N-RAS upregulation.
- Published in:
- Nature, 2010, v. 468, n. 7326, p. 973, doi. 10.1038/nature09626
- By:
- Publication type:
- Article
Novel NUDT2 variant causes intellectual disability and polyneuropathy.
- Published in:
- Annals of Clinical & Translational Neurology, 2020, v. 7, n. 11, p. 2320, doi. 10.1002/acn3.51209
- By:
- Publication type:
- Article
RAF1 deficiency causes a lethal syndrome that underscores RTK signaling during embryogenesis.
- Published in:
- EMBO Molecular Medicine, 2023, v. 15, n. 5, p. 1, doi. 10.15252/emmm.202217078
- By:
- Publication type:
- Article
Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome.
- Published in:
- Nature Genetics, 2012, v. 44, n. 7, p. 788, doi. 10.1038/ng.2275
- By:
- Publication type:
- Article
Mutations in IRX5 impair craniofacial development and germ cell migration via SDF1.
- Published in:
- Nature Genetics, 2012, v. 44, n. 6, p. 709, doi. 10.1038/ng.2259
- By:
- Publication type:
- Article
ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome.
- Published in:
- Nature Genetics, 2012, v. 44, n. 5, p. 575, doi. 10.1038/ng.2252
- By:
- Publication type:
- Article
Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1.
- Published in:
- Nature Genetics, 2011, v. 43, n. 4, p. 365, doi. 10.1038/ng.780
- By:
- Publication type:
- Article
Mutations in PYCR1 cause cutis laxa with progeroid features.
- Published in:
- Nature Genetics, 2009, v. 41, n. 9, p. 1016, doi. 10.1038/ng.413
- By:
- Publication type:
- Article
U87MG Decoded: The Genomic Sequence of a Cytogenetically Aberrant Human Cancer Cell Line.
- Published in:
- PLoS Genetics, 2010, v. 6, n. 1, p. 1, doi. 10.1371/journal.pgen.1000832
- By:
- Publication type:
- Article
Variant in human POFUT1 reduces enzymatic activity and likely causes a recessive microcephaly, global developmental delay with cardiac and vascular features.
- Published in:
- Glycobiology, 2018, v. 28, n. 5, p. 276, doi. 10.1093/glycob/cwy014
- By:
- Publication type:
- Article
The functional O-mannose glycan on α- dystroglycan contains a phospho-ribitol primed for matriglycan addition.
- Published in:
- eLife, 2016, p. 1, doi. 10.7554/eLife.14473
- By:
- Publication type:
- Article
Whole exome sequencing revealed variants in four genes underlying X-linked intellectual disability in four Iranian families: novel deleterious variants and clinical features with the review of literature.
- Published in:
- BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01680-y
- By:
- Publication type:
- Article
Molecular and phenotypical findings of a novel de novo SYNGAP1 gene variant in an 11-year-old Iranian boy with intellectual disability.
- Published in:
- Laboratory Medicine, 2024, v. 55, n. 2, p. 204, doi. 10.1093/labmed/lmad064
- By:
- Publication type:
- Article
P1‐123: VERY YOUNG ONSET AUTOSOMAL DOMINANT ALZHEIMER'S DISEASE WITH SPASTIC PARAPARESIS DUE TO A NOVEL (F388S) PSEN1 MUTATION.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2019, v. 15, p. P282, doi. 10.1016/j.jalz.2019.06.678
- By:
- Publication type:
- Article
Clinical exome sequencing in neurogenetic and neuropsychiatric disorders.
- Published in:
- Annals of the New York Academy of Sciences, 2016, v. 1366, n. 1, p. 49, doi. 10.1111/nyas.12850
- By:
- Publication type:
- Article
Maternal Uniparental Disomy 14 (UPD14) Identified by Clinical Exome Sequencing in an Adolescent with Diverticulosis.
- Published in:
- ACG Case Reports Journal, 2019, v. 6, n. 3, p. 1, doi. 10.14309/crj.0000000000000021
- By:
- Publication type:
- Article
Mutation in TWINKLE in a Large Iranian Family with Progressive External Ophthalmoplegia, Myopathy, Dysphagia and Dysphonia, and Behavior Change.
- Published in:
- Archives of Iranian Medicine (AIM), 2016, v. 19, n. 2, p. 87
- By:
- Publication type:
- Article
Maternal mosaicism in SSBP1 causing optic atrophy with retinal degeneration: implications for genetic counseling.
- Published in:
- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02748-9
- By:
- Publication type:
- Article
A case report of a novel germline GNAS mutation in sonic hedgehog activated medulloblastoma.
- Published in:
- 2019
- By:
- Publication type:
- case study
Novel association of familial testicular germ cell tumor and autosomal dominant polycystic kidney disease with PKD1 mutation.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay.
- Published in:
- Molecular Medicine, 2022, v. 28, n. 1, p. 1, doi. 10.1186/s10020-022-00464-x
- By:
- Publication type:
- Article
Novel Missense and Splice Site Mutations in USH2A , CDH23 , PCDH15 , and ADGRV1 Are Associated With Usher Syndrome in Lebanon.
- Published in:
- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.864228
- By:
- Publication type:
- Article
INTS13 variants causing a recessive developmental ciliopathy disrupt assembly of the Integrator complex.
- Published in:
- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-33547-8
- By:
- Publication type:
- Article
Exome sequencing for the diagnosis of 46,XY disorders of sex development.
- Published in:
- 2015
- By:
- Publication type:
- journal article
Characterization of spastic paraplegia in a family with a novel PSEN1 mutation.
- Published in:
- Brain Communications, 2023, v. 5, n. 2, p. 1, doi. 10.1093/braincomms/fcad030
- By:
- Publication type:
- Article
Next-generation mapping: a novel approach for detection of pathogenic structural variants with a potential utility in clinical diagnosis.
- Published in:
- Genome Medicine, 2017, v. 9, p. 1, doi. 10.1186/s13073-017-0479-0
- By:
- Publication type:
- Article
Case report: novel PCDH15 variant causes usher syndrome type 1F with congenital hearing loss and syndromic retinitis pigmentosa.
- Published in:
- 2022
- By:
- Publication type:
- journal article
De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing.
- Published in:
- BMC Medical Genetics, 2014, v. 15, n. 1, p. 1, doi. 10.1186/1471-2350-15-49
- By:
- Publication type:
- Article
A novel mutation in KCNA1 causes episodic ataxia without myokymia.
- Published in:
- Human Mutation, 2004, v. 24, n. 6, p. 536, doi. 10.1002/humu.9295
- By:
- Publication type:
- Article
Exome sequencing-based copy-number variation and loss of heterozygosity detection: ExomeCNV.
- Published in:
- Bioinformatics, 2011, v. 27, n. 19, p. 2648, doi. 10.1093/bioinformatics/btr462
- By:
- Publication type:
- Article
Correction: U87MG Decoded: The Genomic Sequence of a Cytogenetically Aberrant Human Cancer Cell Line.
- Published in:
- 2018
- By:
- Publication type:
- Correction Notice
A Sodium Channel Myotonia Presenting with Intermittent Dysphagia as a Manifestation of a Rare SCN4A Variant.
- Published in:
- Journal of Molecular Neuroscience, 2017, v. 61, n. 3, p. 312, doi. 10.1007/s12031-016-0878-5
- By:
- Publication type:
- Article
A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders.
- Published in:
- Human Mutation, 2020, v. 41, n. 2, p. 487, doi. 10.1002/humu.23946
- By:
- Publication type:
- Article
Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach.
- Published in:
- Human Mutation, 2018, v. 39, n. 11, p. 1641, doi. 10.1002/humu.23643
- By:
- Publication type:
- Article
MPEG1/Perforin-2 Haploinsufficiency Associated Polymicrobial Skin Infections and Considerations for Interferon-γ Therapy.
- Published in:
- Frontiers in Immunology, 2020, v. 11, p. N.PAG, doi. 10.3389/fimmu.2020.601584
- By:
- Publication type:
- Article