Found: 51
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Embryo tracking system for high-throughput sequencing-based preimplantation genetic testing.
- Published in:
- 2022
- By:
- Publication type:
- journal article
Liquid biopsy: state of reproductive medicine and beyond.
- Published in:
- 2021
- By:
- Publication type:
- journal article
The Effectiveness of an Online Decision Aid on Reproductive Options for Couples at Risk of Transmitting a Genetic Disease to their Offspring: Protocol for a Randomized Controlled Trial.
- Published in:
- Health Psychology Bulletin, 2023, v. 7, n. 1, p. 17, doi. 10.5334/hpb.39
- By:
- Publication type:
- Article
Analysis of severely affected patients with dihydropyrimidine dehydrogenase deficiency reveals large intragenic rearrangements of DPYD and a de novo interstitial deletion del(1)(p13.3p21.3).
- Published in:
- Human Genetics, 2009, v. 125, n. 5/6, p. 581, doi. 10.1007/s00439-009-0653-6
- By:
- Publication type:
- Article
Structural and functional cardiac changes in myotonic dystrophy type 1: a cardiovascular magnetic resonance study.
- Published in:
- Journal of Cardiovascular Magnetic Resonance (BioMed Central), 2012, v. 14, n. 1, p. 48, doi. 10.1186/1532-429X-14-48
- By:
- Publication type:
- Article
Advantages and Disadvantages of Different Implementation Strategies of Non-Invasive Prenatal Testing in Down Syndrome Screening Programmes.
- Published in:
- Public Health Genomics, 2015, v. 18, n. 5, p. 260, doi. 10.1159/000435780
- By:
- Publication type:
- Article
The effects of an online decision aid to support the reproductive decision‐making process of genetically at risk couples—A pilot study.
- Published in:
- Journal of Genetic Counseling, 2023, v. 32, n. 1, p. 153, doi. 10.1002/jgc4.1631
- By:
- Publication type:
- Article
Online decision support for persons having a genetic predisposition to cancer and their partners during reproductive decision‐making.
- Published in:
- Journal of Genetic Counseling, 2019, v. 28, n. 3, p. 533, doi. 10.1002/jgc4.1056
- By:
- Publication type:
- Article
Mutation-specific effects in germline transmission of pathogenic mtDNA variants.
- Published in:
- 2018
- By:
- Publication type:
- journal article
PGD for the m.14487 T>C mitochondrial DNA mutation resulted in the birth of a healthy boy.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Serum AMH levels in healthy women from BRCA1/2 mutated families: are they reduced?
- Published in:
- 2016
- By:
- Publication type:
- journal article
Non-invasive prenatal diagnosis for aneuploidy: toward an integral ethical assessment.
- Published in:
- Human Reproduction, 2011, v. 26, n. 11, p. 2915, doi. 10.1093/humrep/der268
- By:
- Publication type:
- Article
Profiles and motives for PGD: a prospective cohort study of couples referred for PGD in the Netherlands.
- Published in:
- Human Reproduction, 2011, v. 26, n. 7, p. 1826, doi. 10.1093/humrep/der137
- By:
- Publication type:
- Article
Advances in prenatal screening: the ethical dimension.
- Published in:
- 2011
- By:
- Publication type:
- research
Variant CCG and GGC repeats within the CTG expansion dramatically modify mutational dynamics and likely contribute toward unusual symptoms in some myotonic dystrophy type 1 patients.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 8, p. 1399, doi. 10.1093/hmg/ddq015
- By:
- Publication type:
- Article
PGD for hereditary breast and ovarian cancer: the route to universal tests for BRCA1 and BRCA2 mutation carriers.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 12, p. 1361, doi. 10.1038/ejhg.2013.50
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- Publication type:
- Article
Präimplantationsdiagnostik in den Niederlanden.
- Published in:
- Medizinische Genetik, 2016, v. 28, n. 3, p. 310, doi. 10.1007/s11825-016-0102-6
- By:
- Publication type:
- Article
An urgent need for a change in policy revealed by a study on prenatal testing for Duchenne muscular dystrophy.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 1, p. 21, doi. 10.1038/ejhg.2012.101
- By:
- Publication type:
- Article
SNP array-based copy number and genotype analyses for preimplantation genetic diagnosis of human unbalanced translocations.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 9, p. 938, doi. 10.1038/ejhg.2012.27
- By:
- Publication type:
- Article
Preimplantation genetic diagnosis (PGD) for Huntington's disease: the experience of three European centres.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 9, p. 1010, doi. 10.1038/ejhg.2012.122
- By:
- Publication type:
- Article
Preimplantation genetic diagnosis (PGD) for Huntington's disease: the experience of three European centres.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 4, p. 368, doi. 10.1038/ejhg.2011.202
- By:
- Publication type:
- Article
Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 8, p. 872, doi. 10.1038/ejhg.2010.23
- By:
- Publication type:
- Article
Erratum to: Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients.
- Published in:
- 2010
- By:
- Publication type:
- Correction notice
Non-invasive prenatal testing: ethical issues explored.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 3, p. 272, doi. 10.1038/ejhg.2009.203
- By:
- Publication type:
- Article
Preimplantation genetic diagnosis for mitochondrial DNA disorders: ethical guidance for clinical practice.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 12, p. 1550, doi. 10.1038/ejhg.2009.88
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- Publication type:
- Article
Counseling young women with early breast cancer on fertility preservation.
- Published in:
- Journal of Assisted Reproduction & Genetics, 2019, v. 36, n. 12, p. 2593, doi. 10.1007/s10815-019-01615-6
- By:
- Publication type:
- Article
Perinatal follow-up of children born after preimplantation genetic diagnosis between 1995 and 2014.
- Published in:
- Journal of Assisted Reproduction & Genetics, 2018, v. 35, n. 11, p. 1995, doi. 10.1007/s10815-018-1286-2
- By:
- Publication type:
- Article
Preserving fertility in young women undergoing chemotherapy for early breast cancer; the Maastricht experience.
- Published in:
- Breast Cancer Research & Treatment, 2020, v. 181, n. 1, p. 77, doi. 10.1007/s10549-020-05598-2
- By:
- Publication type:
- Article
Predictive testing of minors for Huntington's disease: The UK and Netherlands experiences.
- Published in:
- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2018, v. 177, n. 1, p. 35, doi. 10.1002/ajmg.b.32582
- By:
- Publication type:
- Article
Delusional and psychotic disorders in juvenile myotonic dystrophy type-1.
- Published in:
- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2017, v. 174, n. 4, p. 359, doi. 10.1002/ajmg.b.32524
- By:
- Publication type:
- Article
Facioscapulohumeral muscular dystrophy—Reproductive counseling, pregnancy, and delivery in a complex multigenetic disease.
- Published in:
- Clinical Genetics, 2022, v. 101, n. 2, p. 149, doi. 10.1111/cge.14031
- By:
- Publication type:
- Article
Exploring the preferences of involved health professionals regarding the implementation of an online decision aid to support couples during reproductive decision-making in hereditary cancer: a mixed methods approach.
- Published in:
- Familial Cancer, 2019, v. 18, n. 2, p. 285, doi. 10.1007/s10689-019-00119-7
- By:
- Publication type:
- Article
The development of an online decision aid to support persons having a genetic predisposition to cancer and their partners during reproductive decision-making: a usability and pilot study.
- Published in:
- Familial Cancer, 2019, v. 18, n. 1, p. 137, doi. 10.1007/s10689-018-0092-4
- By:
- Publication type:
- Article
Human parvovirus B19 infection and unbalanced translocation in a case of hydrops fetalis.
- Published in:
- 1994
- By:
- Publication type:
- journal article
An Unusual Triad in Pediatric Neurology: A Case Report on Cerebral Palsy, Epilepsy, and Duchenne Muscular Dystrophy.
- Published in:
- Child Neurology Open, 2016, v. 3, p. 1, doi. 10.1177/2329048X16642948
- By:
- Publication type:
- Article
What next for preimplantation genetic screening?
- Published in:
- Human Reproduction, 2008, v. 23, n. 3, p. 478, doi. 10.1093/humrep/dem424
- By:
- Publication type:
- Article
Diagnosing Juvenile Huntington's Disease: An Explorative Study among Caregivers of Affected Children.
- Published in:
- Brain Sciences (2076-3425), 2020, v. 10, n. 3, p. 155, doi. 10.3390/brainsci10030155
- By:
- Publication type:
- Article
Phenotypic and molecular insights into CASK-related disorders in males.
- Published in:
- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0256-3
- By:
- Publication type:
- Article
Phenotypic and molecular insights into CASK-related disorders in males.
- Published in:
- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 44, doi. 10.1186/s13023-015-0256-3
- By:
- Publication type:
- Article
To Test or Not to Test? Metabolic Testing in Adolescents and Adults With Intellectual Disability.
- Published in:
- Journal of Policy & Practice in Intellectual Disabilities, 2008, v. 5, n. 3, p. 167, doi. 10.1111/j.1741-1130.2008.00169.x
- By:
- Publication type:
- Article
Peripheral neuropathy in myotonic dystrophy type 1.
- Published in:
- Journal of the Peripheral Nervous System, 2011, v. 16, n. 1, p. 24, doi. 10.1111/j.1529-8027.2011.00313.x
- By:
- Publication type:
- Article
Mutation analysis of the entire mitochondrial genome using denaturing high performance liquid chromatography.
- Published in:
- Nucleic Acids Research, 2000, v. 28, n. 20, p. e89, doi. 10.1093/nar/28.20.e89
- By:
- Publication type:
- Article
The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions.
- Published in:
- Brain: A Journal of Neurology, 2012, v. 135, n. 3, p. 723
- By:
- Publication type:
- Article
An FBN1 Deep Intronic Mutation in a Familial Case of Marfan Syndrome: An Explanation for Genetically Unsolved Cases?
- Published in:
- Human Mutation, 2014, v. 35, n. 5, p. 571, doi. 10.1002/humu.22540
- By:
- Publication type:
- Article
Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers–Danlos syndrome.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 20, p. 3475, doi. 10.1093/hmg/ddy234
- By:
- Publication type:
- Article
Evidence for increased SOX3 dosage as a risk factor for X-linked hypopituitarism and neural tube defects.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 8, p. 1947, doi. 10.1002/ajmg.a.36580
- By:
- Publication type:
- Article
Early onset collagen VI myopathies: Genetic and clinical correlations.
- Published in:
- Annals of Neurology, 2010, v. 68, n. 4, p. 511, doi. 10.1002/ana.22087
- By:
- Publication type:
- Article
The mutational spectrum of the Sonic Hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly.
- Published in:
- Human Molecular Genetics, 1999, v. 8, n. 13, p. 2479, doi. 10.1093/hmg/8.13.2479
- By:
- Publication type:
- Article
Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 3, p. 323
- By:
- Publication type:
- Article
A deletion of 1.6 kb proximal to the CGG repeat of the FMR1 gene causes the clinical phenotype of the fragile X syndrome.
- Published in:
- Human Molecular Genetics, 1994, v. 3, n. 4, p. 615
- By:
- Publication type:
- Article