Works matching DE "GENETIC counseling"
Results: 5000
Genetic Counselling and Prenatal Diagnosis in a Case of Harlequin Ichthyosis: A Novel ABCA12 Gene Mutation.
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- Journal of Clinical & Diagnostic Research, 2025, v. 19, n. 2, p. 1, doi. 10.7860/JCDR/2025/74521.20614
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- Article
Case report: A novel intronic JMJD6 likely pathogenic variant (c.941+75G > T) associated with congenital eyelid coloboma in one of the identical twin sisters.
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- Frontiers in Genetics, 2025, p. 1, doi. 10.3389/fgene.2025.1536000
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- Article
First clinical and pedigree study of rare HBB: c.316–90 A > G variant in β-globin gene in Chinese population using third-generation sequencing.
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- Annals of Hematology, 2025, v. 104, n. 1, p. 75, doi. 10.1007/s00277-024-06168-y
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- Article
ChromInst: a multicentre evaluation of robustness in aneuploidy and structural rearrangement testing.
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- Journal of Translational Medicine, 2025, v. 23, n. 1, p. 1, doi. 10.1186/s12967-025-06242-7
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- Article
Familial exudative vitreoretinopathy caused by CTNNB1 gene de novo mutation in a Chinese family: a case report.
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- BMC Pediatrics, 2025, v. 25, n. 1, p. 1, doi. 10.1186/s12887-025-05508-9
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- Article
Retinocytoma: understanding pathogenesis, diagnosis, and treatment approaches.
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- International Journal of Retina & Vitreous, 2025, v. 11, n. 1, p. 1, doi. 10.1186/s40942-025-00642-z
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- Article
Prophylactic Mastectomy as a Preventive Strategy for High-Risk Breast Cancer Populations in Pakistan.
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- Pakistan Journal of Public Health, 2024, v. 14, n. 4, p. 236, doi. 10.32413/pjph.v14i4.1520
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- Article
Reproductive behaviour of mothers of children with beta-thalassaemia major.
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- Eastern Mediterranean Health Journal, 2012, v. 18, n. 3, p. 246, doi. 10.26719/2012.18.3.246
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- Article
Outcome and management of pregnancy in women with thalassaemia in Cyprus.
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- 2008
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- Journal Article
Supporting patients after retinoblastoma.
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- 2010
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- Publication type:
- Case Study
Genetic Testing and the Early Hearing Detection and Intervention Process.
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- Volta Review, 2003, v. 103, n. 4, p. 371
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- Article
Genetic counseling for hearing loss.
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- Volta Review, 1997, v. 99, n. 5, p. 85
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- Article
EUGENETICS: A POLEMICAL VIEW OF SOCIAL POLICY IN THE GENETIC AGE.
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- New Formations, 2007, n. 60, p. 89
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- Article
We Can Do Better: Reproductive Health Counseling for Women with Congenital Heart Disease and Disabilities.
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- 2023
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- Publication type:
- Editorial
Reducing Disparities in Receipt of Genetic Counseling for Underserved Women at Risk of Hereditary Breast and Ovarian Cancer.
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- Journal of Women's Health (15409996), 2020, v. 29, n. 8, p. 1131, doi. 10.1089/jwh.2019.7984
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- Publication type:
- Article
Breast Cancer Chemoprevention: A Practical Guide for the Primary Care Provider.
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- Journal of Women's Health (15409996), 2020, v. 29, n. 1, p. 46, doi. 10.1089/jwh.2018.7643
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- Publication type:
- Article
Communicating with Daughters About Familial Risk of Breast Cancer: Individual, Family, and Provider Influences on Women's Knowledge of Cancer Risk.
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- Journal of Women's Health (15409996), 2018, v. 27, n. 5, p. 630, doi. 10.1089/jwh.2017.6528
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- Article
Offering Prenatal Screening in the Age of Genomic Medicine: A Practical Guide.
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- Journal of Women's Health (15409996), 2017, v. 26, n. 7, p. 755, doi. 10.1089/jwh.2016.6098
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- Publication type:
- Article
Surveillance and Care of the Gynecologic Cancer Survivor.
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- Journal of Women's Health (15409996), 2015, v. 24, n. 11, p. 899, doi. 10.1089/jwh.2014.5127
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- Publication type:
- Article
Nonframeshifting indel variations in polyalanine repeat of HOXD13 gene underlies hereditary limb malformation for two Chinese families.
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- Developmental Dynamics, 2021, v. 250, n. 9, p. 1220, doi. 10.1002/dvdy.310
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- Article
Psychological support needs for women at high genetic risk of breast cancer: some preliminary indicators.
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- Psycho-Oncology, 1998, v. 7, n. 5, p. 402, doi. 10.1002/(SICI)1099-1611(1998090)7:5<402::AID-PON317>3.0.CO;2-X
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- Publication type:
- Article
‘You don’t want to lose your ovaries because you think ‘I might become a man’ ’. Women’s perceptions of prophylactic surgery as a cancer risk management option.
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- Psycho-Oncology, 1998, v. 7, n. 3, p. 263, doi. 10.1002/(SICI)1099-1611(199805/06)7:3<263::AID-PON307>3.0.CO;2-Q
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- Article
Diagnostic strategy for inherited hypomagnesemia.
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- Clinical & Experimental Nephrology, 2017, v. 21, n. 6, p. 1003, doi. 10.1007/s10157-017-1396-7
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- Article
Rhabdoid Tumor Predisposition Syndrome.
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- Pediatric & Developmental Pathology, 2015, v. 18, n. 1, p. 49, doi. 10.2350/14-07-1531-MISC.1
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- Publication type:
- Article
Mutation analysis of the ED1 gene in two Chinese Han families with X-linked hypohidrotic ectodermal dysplasia.
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- Archives of Dermatological Research, 2003, v. 295, n. 1, p. 38, doi. 10.1007/s00403-003-0394-7
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- Publication type:
- Article
Incidence of Sickle Cell Trait -- United States, 2010.
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- MMWR: Morbidity & Mortality Weekly Report, 2014, v. 63, n. 49, p. 1155
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- Article
Etiological Evaluation of Patients with Hepatomegaly, Splenomegaly, and Hepatosplenomegaly Referred to a Pediatric Metabolism Unit.
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- Acibadem Saglik Bilimleri Dergisi, 2022, v. 13, n. 3, p. 369, doi. 10.31067/acusaglik.987546
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- Publication type:
- Article
R306X Mutation in the MECP2 Gene Causes an Atypical Rett Syndrome in a Moroccan Patient: A Case Report.
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- Clinical Pathology, 2022, v. 15, p. 1, doi. 10.1177/2632010X221124269
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- Publication type:
- Article
R306X Mutation in the MECP2 Gene Causes an Atypical Rett Syndrome in a Moroccan Patient: A Case Report.
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- Clinical Pathology, 2022, v. 15, p. 1, doi. 10.1177/2632010x221124269
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- Publication type:
- Article
A rare case of the complex phenotype of hereditary spastic paraparesis due to a mutation in a novel gene variant.
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- 2022
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- Publication type:
- Case Study
Clinical spectrum and Cytogenetic characterization of patients with Turner Syndrome – Twin case report.
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- 2022
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- Publication type:
- Case Study
Prenatal Implications in A Robertsonian Translocation Silent Carrier Female -- A Case Report.
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- Fertility Science & Research, 2024, v. 11, n. 1, p. 1, doi. 10.25259/FSR_45_23
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- Article
Autosomal Recessive Non-Syndromic Hearing Loss: A Case Report with a Novel TRIOBP Gene Variant.
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- Case Reports in Clinical Practice, 2024, v. 9, n. 3, p. 108
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- Article
INFORMED CONSENT WHEN TAKING GENETIC DECISIONS.
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- Medicine & Law (World Association for Medical Law), 2004, v. 23, n. 2, p. 337
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- Article
Bi-allelic missense variants in MEI4 cause preimplantation embryonic arrest and female infertility.
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- Human Genetics, 2024, v. 143, n. 9/10, p. 1049, doi. 10.1007/s00439-023-02633-2
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- Article
Automatized detection of uniparental disomies in a large cohort.
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- Human Genetics, 2024, v. 143, n. 8, p. 955, doi. 10.1007/s00439-024-02687-w
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- Article
Expansion of the complex genotypic and phenotypic spectrum of FGFR2-associated neurocutaneous syndromes.
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- Human Genetics, 2024, v. 143, n. 2, p. 159, doi. 10.1007/s00439-023-02634-1
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- Article
Quantitative assessment of low-level parental mosaicism of SNVs and CNVs in Waardenburg syndrome.
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- Human Genetics, 2023, v. 142, n. 3, p. 419, doi. 10.1007/s00439-022-02517-x
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- Article
Genome screening, reporting, and genetic counseling for healthy populations.
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- Human Genetics, 2023, v. 142, n. 2, p. 181, doi. 10.1007/s00439-022-02480-7
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- Publication type:
- Article
De novo mutations in the BMP signaling pathway in lambdoid craniosynostosis.
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- Human Genetics, 2023, v. 142, n. 1, p. 21, doi. 10.1007/s00439-022-02477-2
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- Publication type:
- Article
The genetic etiology of hearing loss in Japan revealed by the social health insurance-based genetic testing of 10K patients.
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- Human Genetics, 2022, v. 141, n. 3/4, p. 665, doi. 10.1007/s00439-021-02371-3
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- Article
Novel gene discovery for hearing loss and other routes to increased diagnostic rates.
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- Human Genetics, 2022, v. 141, n. 3/4, p. 383, doi. 10.1007/s00439-021-02374-0
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- Publication type:
- Article
Molecular genetic landscape of hereditary hearing loss in Pakistan.
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- Human Genetics, 2022, v. 141, n. 3/4, p. 633, doi. 10.1007/s00439-021-02320-0
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- Publication type:
- Article
Unraveling the genetic complexities of combined retinal dystrophy and hearing impairment.
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- Human Genetics, 2022, v. 141, n. 3/4, p. 785, doi. 10.1007/s00439-021-02303-1
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- Publication type:
- Article
ATR-X syndrome: genetics, clinical spectrum, and management.
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- Human Genetics, 2021, v. 140, n. 12, p. 1625, doi. 10.1007/s00439-021-02361-5
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- Article
An overview of germline variations in genes of primary immunodeficiences through integrative analysis of ClinVar, HGMD<sup>®</sup> and dbSNP databases.
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- Human Genetics, 2021, v. 140, n. 9, p. 1379, doi. 10.1007/s00439-021-02316-w
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- Publication type:
- Article
Disclosure of secondary findings in exome sequencing of 2480 Japanese cancer patients.
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- Human Genetics, 2021, v. 140, n. 2, p. 321, doi. 10.1007/s00439-020-02207-6
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- Article
Genetics of the congenital absence of the vas deferens.
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- Human Genetics, 2021, v. 140, n. 1, p. 59, doi. 10.1007/s00439-020-02122-w
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- Publication type:
- Article
Expanded carrier screening: counseling and considerations.
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- Human Genetics, 2020, v. 139, n. 9, p. 1131, doi. 10.1007/s00439-019-02080-y
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- Publication type:
- Article
The rare 13q33–q34 microdeletions: eight new patients and review of the literature.
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- Human Genetics, 2019, v. 138, n. 10, p. 1145, doi. 10.1007/s00439-019-02048-y
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- Publication type:
- Article