Found: 167
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Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome.
- Published in:
- Human Genetics, 2007, v. 121, n. 6, p. 685, doi. 10.1007/s00439-007-0362-y
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- Publication type:
- Article
Identification and molecular modelling of a mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11).
- Published in:
- Human Genetics, 2004, v. 115, n. 2, p. 149, doi. 10.1007/s00439-004-1137-3
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- Publication type:
- Article
Novel types of mutation in the choroideremia (CHM) gene: a full-length L1 insertion and an intronic mutation activating a cryptic exon.
- Published in:
- Human Genetics, 2003, v. 113, n. 3, p. 268, doi. 10.1007/s00439-003-0970-0
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- Article
Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly.
- Published in:
- 2002
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- Publication type:
- Erratum
Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly.
- Published in:
- Human Genetics, 2002, v. 110, n. 4, p. 297, doi. 10.1007/s00439-002-0695-5
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- Publication type:
- Article
Ciliary Dyneins and Dynein Related Ciliopathies.
- Published in:
- Cells (2073-4409), 2021, v. 10, n. 8, p. 1885, doi. 10.3390/cells10081885
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- Publication type:
- Article
The Pathogenesis of Ventral Idiopathic Herniation of the Spinal Cord: A Hypothesis Based on the Review of the Literature.
- Published in:
- Frontiers in Neurology, 2017, p. 1, doi. 10.3389/fneur.2017.00476
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- Publication type:
- Article
Unlocking Mendelian disease using exome sequencing.
- Published in:
- Genome Biology, 2011, v. 12, n. 9, p. 228, doi. 10.1186/gb-2011-12-9-228
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- Publication type:
- Article
The Relationship between Clinical Severity of Noonan's Syndrome and Growth, Growth Hormone (GH) Secretion and Response to GH Treatment.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2002, v. 15, n. 2, p. 175, doi. 10.1515/jpem.2002.15.2.175
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- Publication type:
- Article
Clinical geneticists' views on and experiences with unsolicited findings in next‐generation sequencing: "A great technology creating new dilemmas".
- Published in:
- Journal of Genetic Counseling, 2023, v. 32, n. 2, p. 387, doi. 10.1002/jgc4.1647
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- Publication type:
- Article
High Satisfaction and Low Distress in Breast Cancer Patients One Year after BRCA-Mutation Testing without Prior Face-to-Face Genetic Counseling.
- Published in:
- Journal of Genetic Counseling, 2016, v. 25, n. 3, p. 504, doi. 10.1007/s10897-015-9899-4
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- Publication type:
- Article
BARDET-BIEDL SYNDROME - CASE PRESENTATION.
- Published in:
- Romanian Journal of Pediatrics / Revista Romana de Pediatrie, 2015, v. 64, n. 3, p. 289, doi. 10.37897/rjp.2015.3.11
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- Publication type:
- Article
SINDROMUL SMITH-LEMLI-OPITZ. PREZENTARE DE CAZ.
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- Romanian Journal of Pediatrics / Revista Romana de Pediatrie, 2015, v. 64, n. 1, p. 70, doi. 10.37897/rjp.2015.1.15
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- Publication type:
- Article
SMITH-LEMLI-OPITZ SYNDROME. CASE REPORT.
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- Romanian Journal of Pediatrics / Revista Romana de Pediatrie, 2015, v. 64, n. 1, p. 34, doi. 10.37897/rjp.2015.1.7
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- Publication type:
- Article
SINDROMUL LEOPARD. CAZURI FAMILIALE.
- Published in:
- Romanian Journal of Pediatrics / Revista Romana de Pediatrie, 2014, v. 63, n. 1, p. 109
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- Publication type:
- Article
LEOPARD SYNDROME. FAMILIAL CASES.
- Published in:
- Romanian Journal of Pediatrics / Revista Romana de Pediatrie, 2014, v. 63, n. 1, p. 57
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- Publication type:
- Article
Generative artificial intelligence to produce high-fidelity blastocyst-stage embryo images.
- Published in:
- Human Reproduction, 2024, v. 39, n. 6, p. 1197, doi. 10.1093/humrep/deae064
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- Publication type:
- Article
At age 9, the methylome of assisted reproductive technology children that underwent embryo culture in different media is not significantly different on a genome-wide scale.
- Published in:
- 2022
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- Publication type:
- journal article
Embryo tracking system for high-throughput sequencing-based preimplantation genetic testing.
- Published in:
- 2022
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- Publication type:
- journal article
Liquid biopsy: state of reproductive medicine and beyond.
- Published in:
- 2021
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- Publication type:
- journal article
De novo mutations in human genetic disease.
- Published in:
- 2012
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- Publication type:
- journal article
De novo mutations in human genetic disease.
- Published in:
- Nature Reviews Genetics, 2012, v. 13, n. 8, p. 565, doi. 10.1038/nrg3241
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- Publication type:
- Article
Opinion: From syndrome families to functional genomics.
- Published in:
- Nature Reviews Genetics, 2004, v. 5, n. 7, p. 545, doi. 10.1038/nrg1383
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- Publication type:
- Article
Lessons learned from rapid exome sequencing for 575 critically ill patients across the broad spectrum of rare disease.
- Published in:
- Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2023.1304520
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- Publication type:
- Article
Holoprosencephaly and preaxial polydactyly associated with a 1.24 Mb duplication encompassing FBXW11 at 5q35.1.
- Published in:
- Journal of Human Genetics, 2006, v. 51, n. 8, p. 721, doi. 10.1007/s10038-006-0010-8
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- Publication type:
- Article
Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 11, p. 2888
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- Publication type:
- Article
Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 8, p. 1654, doi. 10.1093/hmg/ddt015
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- Publication type:
- Article
Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 19, p. 3579, doi. 10.1093/hmg/ddp306
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- Publication type:
- Article
A novel translation re-initiation mechanism for the p63 gene revealed by amino-terminal truncating mutations in Rapp-Hodgkin/Hay-Wells-like syndromes.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 13, p. 1968, doi. 10.1093/hmg/ddn094
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- Publication type:
- Article
Characterization of a recurrent 15q24 microdeletion syndrome.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 5, p. 567, doi. 10.1093/hmg/ddm016
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- Publication type:
- Article
Identification of disease genes by whole genome CGH arrays.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 2, p. r215, doi. 10.1093/hmg/ddi268
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- Publication type:
- Article
Identification of disease genes by whole genome CGH arrays.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. suppl_2, p. R215, doi. 10.1093/hmg/ddi268
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- Publication type:
- Article
De novo mutations in PLXND1 and REV3L cause Möbius syndrome.
- Published in:
- Nature Communications, 2015, v. 6, n. 6, p. 7199, doi. 10.1038/ncomms8199
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- Publication type:
- Article
Syndromic X-linked intellectual disability segregating with a missense variant in RLIM.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 12, p. 1652, doi. 10.1038/ejhg.2015.30
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- Publication type:
- Article
Further delineation of the KBG syndrome caused by ANKRD11 aberrations.
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- European Journal of Human Genetics, 2015, v. 23, n. 9, p. 1270, doi. 10.1038/ejhg.2015.130
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- Publication type:
- Article
Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations.
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- European Journal of Human Genetics, 2015, v. 23, n. 9, p. 1176, doi. 10.1038/ejhg.2014.253
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- Publication type:
- Article
Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 3, p. 317, doi. 10.1038/ejhg.2014.115
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- Publication type:
- Article
Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 3, p. 292, doi. 10.1038/ejhg.2014.95
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- Publication type:
- Article
Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 7, p. 888, doi. 10.1038/ejhg.2013.154
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- Publication type:
- Article
A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndrome.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 6, p. 844, doi. 10.1038/ejhg.2013.249
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- Publication type:
- Article
NBEA: Developmental disease gene with early generalized epilepsy phenotypes.
- Published in:
- 2018
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- Publication type:
- journal article
An E280K Missense Variant in KCND3 /Kv4.3—Case Report and Functional Characterization.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 13, p. 10924, doi. 10.3390/ijms241310924
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- Publication type:
- Article
Genetic analysis of spinal dysraphism with a hamartomatous growth (appendix) of the spinal cord: a case series.
- Published in:
- 2020
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- Publication type:
- journal article
Status quo of annotation of human disease variants.
- Published in:
- BMC Bioinformatics, 2013, v. 14, n. 1, p. 1, doi. 10.1186/1471-2105-14-352
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- Publication type:
- Article
DTYMK is essential for genome integrity and neuronal survival.
- Published in:
- Acta Neuropathologica, 2022, v. 143, n. 2, p. 245, doi. 10.1007/s00401-021-02394-0
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- Publication type:
- Article
Maternal risk factors for the VACTERL association: A EUROCAT case–control study.
- Published in:
- Birth Defects Research, 2020, v. 112, n. 9, p. 688, doi. 10.1002/bdr2.1686
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- Publication type:
- Article
Non-Syndromic Cleft Lip with or without Cleft Palate: Genome-Wide Association Study in Europeans Identifies a Suggestive Risk Locus at 16p12.1 and Supports SH3PXD2A as a Clefting Susceptibility Gene.
- Published in:
- Genes, 2019, v. 10, n. 12, p. 1023, doi. 10.3390/genes10121023
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- Publication type:
- Article
Comprehensive de novo mutation discovery with HiFi long-read sequencing.
- Published in:
- Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01183-6
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- Publication type:
- Article
Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applications.
- Published in:
- Genome Medicine, 2022, v. 14, p. 1, doi. 10.1186/s13073-022-01069-z
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- Publication type:
- Article
Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applications.
- Published in:
- Genome Medicine, 2022, v. 14, n. 1, p. 1, doi. 10.1186/s13073-022-01069-z
- By:
- Publication type:
- Article