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Variability of bone marrow morphology in G6PC3 mutations: Is there a genotype-phenotype correlation or age-dependent relationship?
- Published in:
- American Journal of Hematology, 2011, v. 86, n. 2, p. 235, doi. 10.1002/ajh.21930
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- Publication type:
- Article
Inactivity of Peptidase ClpP Causes Primary Accumulation of Mitochondrial Disaggregase ClpX with Its Interacting Nucleoid Proteins, and of mtDNA.
- Published in:
- Cells (2073-4409), 2021, v. 10, n. 12, p. 3354, doi. 10.3390/cells10123354
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- Publication type:
- Article
Agnathia-otocephaly complex and asymmetric velopharyngeal insufficiency due to an in-frame duplication in OTX2.
- Published in:
- Journal of Human Genetics, 2015, v. 60, n. 4, p. 199, doi. 10.1038/jhg.2014.122
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- Publication type:
- Article
Accounting for Capacity Constraints in Economic Evaluations of Precision Medicine: A Systematic Review.
- Published in:
- 2019
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- Publication type:
- journal article
Refusal of viral testing during the SARS-CoV-2 pandemic.
- Published in:
- Clinical Medicine, 2020, v. 20, n. 5, p. e163, doi. 10.7861/clinmed.2020-0388
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- Publication type:
- Article
A single nucleotide polymorphism of bone morphogenic protein-15 is not associated with ovarian reserve or response to ovarian stimulation.
- Published in:
- Human Reproduction, 2014, v. 29, n. 12, p. 2832, doi. 10.1093/humrep/deu264
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- Publication type:
- Article
Quantifying the Impact of Capacity Constraints in Economic Evaluations: An Application in Precision Medicine.
- Published in:
- Medical Decision Making, 2022, v. 42, n. 4, p. 538, doi. 10.1177/0272989X211053792
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- Publication type:
- Article
Heparanase 2, mutated in urofacial syndrome, mediates peripheral neural development in Xenopus.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 16, p. 4302, doi. 10.1093/hmg/ddu147
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- Publication type:
- Article
Common variants modify the age of onset for basal cell carcinomas in Gorlin syndrome.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 5, p. 708, doi. 10.1038/ejhg.2014.167
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- Publication type:
- Article
Diagnosing and Preventing Hearing Loss in the Genomic Age.
- Published in:
- Trends in Hearing, 2019, v. 23, p. N.PAG, doi. 10.1177/2331216519878983
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- Publication type:
- Article
Diagnosing and Preventing Hearing Loss in the Genomic Age.
- Published in:
- Trends in Hearing, 2019, v. 23, p. N.PAG, doi. 10.1177/2331216519878983
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- Publication type:
- Article
Genomic and healthcare dynamics of nosocomial SARS-CoV-2 transmission.
- Published in:
- eLife, 2021, p. 1, doi. 10.7554/eLife.65453
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- Publication type:
- Article
Pathogenic Intronic Splice-Affecting Variants in MYBPC3 in Three Patients with Hypertrophic Cardiomyopathy.
- Published in:
- Cardiogenetics, 2021, v. 11, n. 2, p. 73, doi. 10.3390/cardiogenetics11020009
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- Publication type:
- Article
Mosaic Fabry Disease in a Male Presenting as Hypertrophic Cardiomyopathy.
- Published in:
- Cardiogenetics, 2021, v. 11, n. 1, p. 1, doi. 10.3390/cardiogenetics11010001
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- Publication type:
- Article
Assessment of disease-associated missense variants in RYR2 on transcript splicing.
- Published in:
- Cardiogenetics, 2020, v. 10, n. 1, p. 11, doi. 10.4081/cardiogenetics.2020.8637
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- Publication type:
- Article
Exome Sequencing Identifies a Dominant TNNT3 Mutation in a Large Family with Distal Arthrogryposis.
- Published in:
- Molecular Syndromology, 2014, v. 5, n. 5, p. 218, doi. 10.1159/000365057
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- Publication type:
- Article
The Genomic Architecture of Bladder Exstrophy Epispadias Complex.
- Published in:
- Genes, 2021, v. 12, n. 8, p. 1149, doi. 10.3390/genes12081149
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- Publication type:
- Article
Haplotype analysis of the 185delAG BRCA1 mutation in ethnically diverse populations.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 2, p. 212, doi. 10.1038/ejhg.2012.124
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- Publication type:
- Article
Further delineation of the phenotype of severe congenital neutropenia type 4 due to mutations in G6PC3.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 1, p. 18, doi. 10.1038/ejhg.2010.136
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- Publication type:
- Article
Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.
- Published in:
- Nature Genetics, 2015, v. 47, n. 9, p. 979, doi. 10.1038/ng.3359
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- Publication type:
- Article
Loss-of-function mutations in SMARCE1 cause an inherited disorder of multiple spinal meningiomas.
- Published in:
- Nature Genetics, 2013, v. 45, n. 3, p. 295, doi. 10.1038/ng.2552
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- Publication type:
- Article
Mutations of Human NARS2, Encoding the Mitochondrial Asparaginyl-tRNA Synthetase, Cause Nonsyndromic Deafness and Leigh Syndrome.
- Published in:
- PLoS Genetics, 2015, v. 11, n. 3, p. 1, doi. 10.1371/journal.pgen.1005097
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- Publication type:
- Article
Breast cancer pathology and stage are better predicted by risk stratification models that include mammographic density and common genetic variants.
- Published in:
- Breast Cancer Research & Treatment, 2019, v. 176, n. 1, p. 141, doi. 10.1007/s10549-019-05210-2
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- Publication type:
- Article
The Role of the European Society of Human Genetics in Delivering Genomic Education.
- Published in:
- Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.693952
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- Publication type:
- Article
The Role of the U5 snRNP in Genetic Disorders and Cancer.
- Published in:
- Frontiers in Genetics, 2021, v. 11, p. N.PAG, doi. 10.3389/fgene.2021.636620
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- Publication type:
- Article
Delivery of a Clinical Genomics Service.
- Published in:
- Genes, 2014, v. 5, n. 4, p. 1001, doi. 10.3390/genes5041001
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- Publication type:
- Article
Homozygous novel truncating variant of CLPP associated with severe Perrault syndrome.
- Published in:
- Clinical Genetics, 2024, v. 105, n. 5, p. 584, doi. 10.1111/cge.14514
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- Publication type:
- Article
Expanding the genotypic spectrum of TXNL4A variants in Burn‐McKeown syndrome.
- Published in:
- Clinical Genetics, 2022, v. 101, n. 2, p. 255, doi. 10.1111/cge.14082
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- Publication type:
- Article
Dominant‐negative pathogenic variant BRIP1 c.1045G>C is a high‐risk allele for non‐mucinous epithelial ovarian cancer: A case‐control study.
- Published in:
- Clinical Genetics, 2022, v. 101, n. 1, p. 48, doi. 10.1111/cge.14068
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- Publication type:
- Article
A homozygous missense variant in CHRM3 associated with familial urinary bladder disease.
- Published in:
- Clinical Genetics, 2019, v. 96, n. 6, p. 515, doi. 10.1111/cge.13631
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- Publication type:
- Article
Inflammatory Bowel Disease in the South Asian Population of Northwest England.
- Published in:
- 2008
- By:
- Publication type:
- Letter
Extended gene panel testing in lobular breast cancer.
- Published in:
- Familial Cancer, 2022, v. 21, n. 2, p. 129, doi. 10.1007/s10689-021-00241-5
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- Publication type:
- Article
Exacerbation of Hereditary Warfarin Resistance by Azathioprine.
- Published in:
- Clinical & Applied Thrombosis/Hemostasis, 2011, v. 17, n. 3, p. 293, doi. 10.1177/1076029609356427
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- Publication type:
- Article
Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine.
- Published in:
- Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-21053-2
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- Publication type:
- Article
Foramen Ovale Closure Is a Process of Endothelial-to-Mesenchymal Transition Leading to Fibrosis.
- Published in:
- PLoS ONE, 2014, v. 9, n. 9, p. 1, doi. 10.1371/journal.pone.0107175
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- Publication type:
- Article
A prospective, randomized, placebo-controlled, double-blind, multicenter study of the effects of irbesartan on aortic dilatation in Marfan syndrome (AIMS trial): study protocol.
- Published in:
- Trials, 2013, v. 14, n. 1, p. 1, doi. 10.1186/1745-6215-14-408
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- Publication type:
- Article
A prospective, randomized, placebo-controlled, double-blind, multicenter study of the effects of irbesartan on aortic dilatation in Marfan syndrome (AIMS trial): study protocol.
- Published in:
- 2013
- By:
- Publication type:
- journal article
Germline SMARCE1 mutations predispose to both spinal and cranial clear cell meningiomas.
- Published in:
- Journal of Pathology, 2014, v. 234, n. 4, p. 436, doi. 10.1002/path.4427
- By:
- Publication type:
- Article
The diagnostic utility of clinical exome sequencing in 60 patients with hearing loss disorders: A single‐institution experience.
- Published in:
- Clinical Otolaryngology, 2021, v. 46, n. 6, p. 1257, doi. 10.1111/coa.13826
- By:
- Publication type:
- Article
New insights into Perrault syndrome, a clinically and genetically heterogeneous disorder.
- Published in:
- Human Genetics, 2022, v. 141, n. 3/4, p. 805, doi. 10.1007/s00439-021-02319-7
- By:
- Publication type:
- Article
Human HPSE2 gene transfer ameliorates bladder pathophysiology in a mutant mouse model of urofacial syndrome.
- Published in:
- eLife, 2024, p. 1, doi. 10.7554/eLife.91828
- By:
- Publication type:
- Article
Modelling the developmental spliceosomal craniofacial disorder Burn-McKeown syndrome using induced pluripotent stem cells.
- Published in:
- PLoS ONE, 2020, v. 15, n. 7, p. 1, doi. 10.1371/journal.pone.0233582
- By:
- Publication type:
- Article
A clinical and molecular review of ubiquitous glucose-6-phosphatase deficiency caused by G6PC3 mutations.
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-84
- By:
- Publication type:
- Article
A clinical and molecular review of ubiquitous glucose-6-phosphatase deficiency caused by G6PC3 mutations.
- Published in:
- 2013
- By:
- Publication type:
- journal article
Diverse ancestry whole-genome sequencing association study identifies TBX5 and PTK7 as susceptibility genes for posterior urethral valves.
- Published in:
- eLife, 2022, p. 1, doi. 10.7554/eLife.74777
- By:
- Publication type:
- Article
Diverse ancestry whole-genome sequencing association study identifies TBX5 and PTK7 as susceptibility genes for posterior urethral valves.
- Published in:
- eLife, 2022, p. 1, doi. 10.7554/eLife.74777
- By:
- Publication type:
- Article
Newly recognized recessive syndrome characterized by dysmorphic features, hypogonadotropic hypogonadism, severe microcephaly, and sensorineural hearing loss maps to 3p21.3.
- Published in:
- 2011
- By:
- Publication type:
- Other
DLG5 variants contribute to Crohn disease risk in a Canadian population.
- Published in:
- Human Mutation, 2006, v. 27, n. 4, p. 353, doi. 10.1002/humu.20301
- By:
- Publication type:
- Article
Advantages of a Subcutaneous Implantable Cardioverter-Defibrillator in LAMP2 Hypertrophic Cardiomyopathy.
- Published in:
- Journal of Cardiovascular Electrophysiology, 2013, v. 24, n. 9, p. 1051, doi. 10.1111/jce.12142
- By:
- Publication type:
- Article
Public preferences for pharmacogenetic testing in the NHS: Embedding a discrete choice experiment within service design to better meet user needs.
- Published in:
- British Journal of Clinical Pharmacology, 2024, v. 90, n. 7, p. 1699, doi. 10.1111/bcp.16058
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- Publication type:
- Article