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Analysis of sperm chromosomes in six carriers of rare and common Robertsonian translocations<sup>*</sup>.
- Published in:
- Advances in Hygiene & Experimental Medicine / Postepy Higieny i Medycyny Doswiadczalnej, 2021, v. 75, n. 1, p. 199, doi. 10.5604/01.3001.0014.8122
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- Publication type:
- Article
Dental Abnormalities in Dental-Skeletal-Retinal Anomaly-Positive Cases: Correspondence.
- Published in:
- 2024
- By:
- Publication type:
- Letter
Genome-Wide, Non-Invasive Prenatal Testing for rare chromosomal abnormalities: A systematic review and meta-analysis of diagnostic test accuracy.
- Published in:
- PLoS ONE, 2024, v. 19, n. 11, p. 1, doi. 10.1371/journal.pone.0308008
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- Publication type:
- Article
Trans-acting genetic modifiers of clinical severity in heterozygous β-Thalassemia trait.
- Published in:
- Annals of Hematology, 2024, v. 103, n. 11, p. 4437, doi. 10.1007/s00277-024-06007-0
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- Publication type:
- Article
Clinical features and genotype–phenotype correlations in epilepsy patients with de novo DYNC1H1 variants.
- Published in:
- Epilepsia (Series 4), 2024, v. 65, n. 9, p. 2728, doi. 10.1111/epi.18054
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- Publication type:
- Article
CALR3 defects disrupt sperm-zona pellucida binding in humans: new insights into male factor fertilization failure and relevant clinical therapeutic approaches.
- Published in:
- Human Reproduction, 2024, v. 39, n. 11, p. 2608, doi. 10.1093/humrep/deae205
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- Publication type:
- Article
Prenatal finding of isolated ventricular septal defect: genetic association, outcomes and counseling.
- Published in:
- Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1447216
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- Publication type:
- Article
After-Visit Summary.
- Published in:
- Fourth Genre: Explorations in Nonfiction, 2024, v. 26, n. 2, p. 109, doi. 10.14321/fourthgenre.26.2.0109
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- Publication type:
- Article
Case report: Successful PGT-M based on the identification of a spliceogenic variant in the RPGRIP1L gene through Minigene assay.
- Published in:
- Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1456293
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- Publication type:
- Article
Clinical genome sequencing in patients with suspected rare genetic disease in Peru.
- Published in:
- NPJ Genomic Medicine, 2024, v. 9, n. 1, p. 1, doi. 10.1038/s41525-024-00434-8
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- Publication type:
- Article
Prenatal diagnosis and postnatal follow-up of 15 fetuses with 16p13.11 microduplication syndrome.
- Published in:
- Frontiers in Genetics, 2024, p. 01, doi. 10.3389/fgene.2024.1486974
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- Publication type:
- Article
Preimplantation genetic testing for Cockayne syndrome with a novel ERCC6 variant in a Chinese family.
- Published in:
- Frontiers in Genetics, 2024, p. 01, doi. 10.3389/fgene.2024.1435622
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- Publication type:
- Article
Case Report: Charcot-marie-tooth disease caused by a de novo MORC2 gene mutation - novel insights into pathogenicity and treatment.
- Published in:
- Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1400906
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- Publication type:
- Article
Knowledge and Awareness of Cancer Genome Profiling Tests among Japanese Patients with Cancer.
- Published in:
- Clinics & Practice, 2024, v. 14, n. 5, p. 2105, doi. 10.3390/clinpract14050166
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- Publication type:
- Article
Association of the c.75C>A Variant in CLCC1 with Autosomal Recessive Retinitis Pigmentosa in Pakistan.
- Published in:
- Journal of Liaquat University of Medical & Health Sciences, 2024, v. 23, n. 3, p. 249, doi. 10.22442/jlumhs.2024.01151
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- Publication type:
- Article
The Taylor/Mutch Article Reviewed.
- Published in:
- Oncology (08909091), 2006, v. 20, n. 1, p. 96
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- Publication type:
- Article
Hope and Despair in Pandora's Box: Perceiving Reproductive Reward and Risk of Genetics Technologies and Information.
- Published in:
- Women's Studies in Communication, 2003, v. 26, n. 1, p. 88, doi. 10.1080/07491409.2003.10162453
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- Publication type:
- Article
Prenatal ultrasonographic manifestations of partial trisomy 12q(12q24.2→qter) and partial monosomy 2q (2q37.3→qter).
- Published in:
- Vojnosanitetski Pregled: Military Medical & Pharmaceutical Journal of Serbia, 2020, v. 77, n. 7, p. 754, doi. 10.2298/VSP170316136J
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- Publication type:
- Article
Genetic counseling for hearing loss.
- Published in:
- Volta Review, 1997, v. 99, n. 5, p. 85
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- Publication type:
- Article
Rational use of laboratory tests in dermatology.
- Published in:
- 2018
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- Publication type:
- Editorial
Analysis of twenty pediatric cases of tuberous sclerosis complex: Are we doing enough?
- Published in:
- Indian Journal of Dermatology, Venereology & Leprology, 2015, v. 81, n. 1, p. 23, doi. 10.4103/0378-6323.148560
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- Publication type:
- Article
Trichorhinophalangeal syndrome type I - Clinical, microscopic, and molecular features.
- Published in:
- 2014
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- Publication type:
- Case Study
The Role of Genetic Counseling in the Elective Termination of Pregnancies Involving Fetuses with Disabilities.
- Published in:
- Journal of Special Education, 2002, v. 36, n. 1, p. 48, doi. 10.1177/00224669020360010501
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- Publication type:
- Article
Navigating the Needs of Rural Women with Breast Cancer: A Breast Care Program.
- Published in:
- Clinical Medicine & Research, 2015, v. 13, n. 3/4, p. 149, doi. 10.3121/cmr.2015.1260
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- Publication type:
- Article
Miscellaneous.
- Published in:
- Current Medical Literature: Colorectal Cancer, 2007, v. 1, n. 2, p. 59
- Publication type:
- Article
ISL1 loss-of-function mutation contributes to congenital heart defects.
- Published in:
- Heart & Vessels, 2019, v. 34, n. 4, p. 658, doi. 10.1007/s00380-018-1289-z
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- Publication type:
- Article
Rhabdoid Tumor Predisposition Syndrome.
- Published in:
- 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
Improved health perception after genetic counselling for women at high risk of breast and/or ovarian cancer: construction of new questionnaires-an Italian exploratory study.
- Published in:
- Journal of Cancer Research & Clinical Oncology, 2016, v. 142, n. 3, p. 633, doi. 10.1007/s00432-015-2062-7
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- Publication type:
- Article
Long-term experiences with genetic consultation in people with hereditary breast and ovarian cancer.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Bethlem myopathy: pregnancy and delivery.
- Published in:
- 2014
- By:
- Publication type:
- Letter
Clinical significance of isolated mega cisterna magna.
- Published in:
- 2007
- By:
- Publication type:
- journal article
Cystic hygroma and lymphangioma: associated findings, perinatal outcome and prognostic factors in live-born infants.
- Published in:
- 2007
- By:
- Publication type:
- journal article
Preconception care—when and what: the attitude of Israeli gynaecologists to preconception counseling.
- Published in:
- Archives of Gynecology & Obstetrics, 2007, v. 275, n. 5, p. 367, doi. 10.1007/s00404-006-0268-2
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- Publication type:
- Article
Correction to: MODY patients carrying mutation in syndromic diabetes genes. An Italian single-center experience.
- Published in:
- Acta Diabetologica, 2023, v. 60, n. 3, p. 459, doi. 10.1007/s00592-023-02035-w
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- Publication type:
- Article
Incorporating Pharmacogenomics into Practice.
- Published in:
- Journal of Pharmacy Practice, 2007, v. 20, n. 3, p. 277, doi. 10.1177/0897190007304820
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- Publication type:
- Article
Cancer Risk Assessment and the Genetic Counseling Process: Using Hereditary Breast and Ovarian Cancer as an Example.
- Published in:
- Medical Principles & Practice, 2008, v. 17, n. 3, p. 173, doi. 10.1159/000117790
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- Publication type:
- Article
Clinical and genetic analysis of Niemann-Pick disease type C with a novel NPC1 variant.
- Published in:
- Journal of Rare Diseases, 2024, v. 3, n. 1, p. 1, doi. 10.1007/s44162-024-00043-0
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- Publication type:
- Article
Evaluation of an Italian Population-Based Programme for Risk Assessment and Genetic Counselling and Testing for BRCA1/2-Related Hereditary Breast and Ovarian Cancer after 10 Years of Operation: An Observational Study Protocol.
- Published in:
- Methods & Protocols, 2024, v. 7, n. 4, p. 63, doi. 10.3390/mps7040063
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- Publication type:
- Article
Autonomy, respect, and genetic information policy: a reply to Tuija Takala and Matti Häyry.
- Published in:
- 2000
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- Publication type:
- journal article
Genetic Links, Family Ties, and Social Bonds: Rights and Responsibilities in the Face of Genetic Knowledge.
- Published in:
- Journal of Medicine & Philosophy, 1998, v. 23, n. 1, p. 10, doi. 10.1076/jmep.23.1.10.2594
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- Publication type:
- Article
Improving growth, omega-3 contents, and disease resistance of Asian seabass: status of a 20-year family-based breeding program.
- Published in:
- Reviews in Fish Biology & Fisheries, 2024, v. 34, n. 1, p. 91, doi. 10.1007/s11160-023-09810-6
- By:
- Publication type:
- Article
The Influences of Medical Students' Consent to Participate in Thalassemia Research.
- Published in:
- Kesmas: National Public Health Journal, 2024, v. 19, n. 2, p. 88, doi. 10.21109/kesmas.v19i2.1099
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- Publication type:
- Article
FDA Issues First Approval of Systemic Therapy for Patients With Grade 2 Astrocytoma or Oligodendroglioma With a Susceptible IDH1 or IDH2 mutation.
- Published in:
- Oncology Practice Management, 2024, v. 14, n. 9, p. 18
- Publication type:
- Article
Encourage Your Patients to Participate! US-Based Clinical Trials That Are Actively Recruiting in Ovarian Cancer.
- Published in:
- Oncology Practice Management, 2024, v. 14, n. 9, p. 13
- Publication type:
- Article
Encourage Your Patients to Participate! US-Based Clinical Trials That Are Actively Recruiting in Prostate Cancer.
- Published in:
- Oncology Practice Management, 2024, v. 14, n. 9, p. 11
- Publication type:
- Article
Incidence of Colorectal Cancer Rising in Young Adults.
- Published in:
- Oncology Practice Management, 2024, v. 14, n. 7, p. 18
- Publication type:
- Article
Selpercatinib Improves Outcomes in RET Mutation--Positive Medullary Thyroid Cancer.
- Published in:
- Oncology Practice Management, 2023, v. 13, n. 12, p. 7
- By:
- Publication type:
- Article
Final Analysis of KEYNOTE-826 Trial Confirms Benefit of Pembrolizumab Plus Chemotherapy in First-Line Treatment of Cervical Cancer.
- Published in:
- Oncology Practice Management, 2023, v. 13, n. 8, p. 18
- By:
- Publication type:
- Article
Tafinlar plus Mekinist First Tumor-Agnostic Therapy for Any Unresectable or Metastatic Solid Tumors with BRAF Mutation.
- Published in:
- Oncology Practice Management, 2022, v. 12, n. 9, p. 30
- Publication type:
- Article
Enhertu Receives 2 New Indications: HER2 Mutation--Positive NSCLC and HER2-Low Breast Cancer.
- Published in:
- Oncology Practice Management, 2022, v. 12, n. 9, p. 28
- Publication type:
- Article