Found: 29
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Glycoprotein hormone receptors: link between receptor homodimerization and negative cooperativity.
- Published in:
- EMBO Journal, 2005, v. 24, n. 11, p. 1954, doi. 10.1038/sj.emboj.7600686
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- Publication type:
- Article
Non-coding transcripts in the H19 imprinting control region mediate gene silencing in transgenic Drosophila.
- Published in:
- EMBO Reports, 2007, v. 8, n. 11, p. 1068, doi. 10.1038/sj.embor.7401094
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- Publication type:
- Article
Comprehensive evaluation of the implementation of episignatures for diagnosis of neurodevelopmental disorders (NDDs).
- Published in:
- Human Genetics, 2023, v. 142, n. 12, p. 1721, doi. 10.1007/s00439-023-02609-2
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- Publication type:
- Article
Understanding mutational effects in digenic diseases.
- Published in:
- Nucleic Acids Research, 2017, v. 45, n. 15, p. 1, doi. 10.1093/nar/gkx557
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- Publication type:
- Article
DIDA: A curated and annotated digenic diseases database.
- Published in:
- Nucleic Acids Research, 2016, v. 44, p. D900, doi. 10.1093/nar/gkv1068
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- Publication type:
- Article
A milder form of NSRP1‐associated neurodevelopmental disorder, caused by a missense variant in the nuclear localization signal.
- Published in:
- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 10, p. 1, doi. 10.1002/ajmg.a.63727
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- Publication type:
- Article
Novel homozygous variant of carbonic anhydrase 8 gene expanding the phenotype of cerebellar ataxia, mental retardation, and disequilibrium syndrome subtype 3.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2685, doi. 10.1002/ajmg.a.61805
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- Publication type:
- Article
BCL11A frameshift mutation associated with dyspraxia and hypotonia affecting the fine, gross, oral, and speech motor systems.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 1, p. 201, doi. 10.1002/ajmg.a.38479
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- Publication type:
- Article
Conservation of the H19 noncoding RNA and H19-IGF2 imprinting mechanism in therians.
- Published in:
- Nature Genetics, 2008, v. 40, n. 8, p. 971, doi. 10.1038/ng.168
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- Publication type:
- Article
Rarity of fetal cells in exocervical samples for noninvasive prenatal diagnosis.
- Published in:
- Journal of Perinatal Medicine, 2022, v. 50, n. 4, p. 476, doi. 10.1515/jpm-2021-0291
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- Publication type:
- Article
Prioritization of oligogenic variant combinations in whole exomes.
- Published in:
- Bioinformatics, 2024, v. 40, n. 4, p. 1, doi. 10.1093/bioinformatics/btae184
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- Publication type:
- Article
Identification of differentially methylated regions in rare diseases from a single-patient perspective.
- Published in:
- Clinical Epigenetics, 2022, v. 14, n. 1, p. 1, doi. 10.1186/s13148-022-01403-7
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- Publication type:
- Article
Prediction of Severity of Symptoms in Iatrogenic Ovarian Hyperstimulation Syndrome by Follicle-Stimulating Hormone Receptor Ser<sup>680</sup> Asn Polymorphism.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2004, v. 89, n. 12, p. 6310, doi. 10.1210/jc.2004-1044
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- Publication type:
- Article
Prediction of Severity of Symptoms in Iatrogenic Ovarian Hyperstimulation Syndrome by Follicle Stimulating Hormone Receptor Ser<sup>680</sup>Asn Polymorphism.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2004, v. 89, n. 12, p. 6310, doi. 10.1210/jc.2004-1044
- By:
- Publication type:
- Article
A Mutation in the Follicle-Stimulating Hormone Receptor as a Cause of Familial Spontaneous Ovarian Hyperstimulation Syndrome.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2004, v. 89, n. 4, p. 1255, doi. 10.1210/jcem.89.4.9999
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- Publication type:
- Article
Scaling up oligogenic diseases research with OLIDA: the Oligogenic Diseases Database.
- Published in:
- Database: The Journal of Biological Databases & Curation, 2022, v. 2022, p. 1, doi. 10.1093/database/baac023
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- Publication type:
- Article
Comparative study of keratinocyte primary culture methods from paediatric skin biopsies for RNA‐sequencing.
- Published in:
- Experimental Dermatology, 2022, v. 31, n. 11, p. 1741, doi. 10.1111/exd.14652
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- Publication type:
- Article
The H19 lincRNA is a developmental reservoir of miR-675 that suppresses growth and Igf1r.
- Published in:
- Nature Cell Biology, 2012, v. 14, n. 7, p. 659, doi. 10.1038/ncb2521
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- Publication type:
- Article
Acquired Zinc Deficiency Mimicking Acrodermatitis Enteropathica in a Breast-Fed Premature Infant.
- Published in:
- 2021
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- Publication type:
- Case Study
High-throughput analysis of candidate imprinted genes and allele-specific gene expression in the human term placenta.
- Published in:
- BMC Genetics, 2010, v. 11, p. 25, doi. 10.1186/1471-2156-11-25
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- Publication type:
- Article
Spontaneous resolution of nonimmune hydrops fetalis in a fetus with TP63 gene mutation and LZTR1 gene variants.
- Published in:
- 2021
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- Publication type:
- Case Study
Evaluation of neurodevelopmental symptoms in 10 cases of neonatal ichthyosis and sclerosing cholangitis syndrome.
- Published in:
- Pediatric Dermatology, 2022, v. 39, n. 4, p. 590, doi. 10.1111/pde.14976
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- Publication type:
- Article
A novel homozygous variant in SLC25A46 gene associated with pontocerebellar hypoplasia type 1E: a case report.
- Published in:
- Frontiers in Pediatrics, 2024, p. 1, doi. 10.3389/fped.2024.1303772
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- Publication type:
- Article
Clinical and molecular diagnosis of genodermatoses: Review and perspectives.
- Published in:
- Journal of the European Academy of Dermatology & Venereology, 2023, v. 37, n. 3, p. 488, doi. 10.1111/jdv.18769
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- Publication type:
- Article
ORVAL: a novel platform for the prediction and exploration of disease-causing oligogenic variant combinations.
- Published in:
- Nucleic Acids Research, 2019, v. 47, n. W1, p. W93, doi. 10.1093/nar/gkz437
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- Publication type:
- Article
Truncating RAX Mutations: Anophthalmia, Hypopituitarism, Diabetes Insipidus, and Cleft Palate in Mice and Men.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2019, v. 104, n. 7, p. 2925, doi. 10.1210/jc.2018-02316
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- Publication type:
- Article
Truncating RAX Mutations: Anophthalmia, Hypopituitarism, Diabetes Insipidus, and Cleft Palate in Mice and Men.
- Published in:
- 2019
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- Publication type:
- journal article
Early‐onset and severe pulmonary arterial hypertension due to a novel compound heterozygous association of rare VHL mutations: A case report and review of existing data.
- Published in:
- Pulmonary Circulation, 2022, v. 12, n. 2, p. 1, doi. 10.1002/pul2.12052
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- Publication type:
- Article
Salt-losing tubulopathy worsening the prognosis of renal sarcoidosis.
- Published in:
- Journal of Nephrology (JNonline), 2023, v. 36, n. 3, p. 627, doi. 10.1007/s40620-022-01538-z
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- Publication type:
- Article