Works matching Consanguinity and genetic disease
Results: 46
Nationwide survey on awareness of consanguinity and genetic diseases in Saudi Arabia: challenges and potential solutions to reduce the national healthcare burden.
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- Human Genomics, 2024, v. 18, n. 1, p. 1, doi. 10.1186/s40246-024-00700-x
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- Publication type:
- Article
DNA-based diagnosis of malignant osteopetrosis by whole-genome scan using a single-nucleotide polymorphism microarray: standardization of molecular investigations of genetic diseases due to consanguinity.
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- Journal of Human Genetics, 2007, v. 52, n. 1, p. 98, doi. 10.1007/s10038-006-0075-4
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- Publication type:
- Article
Consanguinity and genetic diseases in North Africa and immigrants to Europe.
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- European Journal of Public Health, 2014, v. 24, n. suppl_1, p. 57, doi. 10.1093/eurpub/cku104
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- Article
Editorial: Consanguinity and rare genetic neurological diseases.
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- Frontiers in Neurology, 2025, p. 1, doi. 10.3389/fneur.2025.1494253
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- Article
Consanguinity and Congenital Heart Disease Susceptibility: Insights into Rare Genetic Variations in Saudi Arabia.
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- Genes, 2022, v. 13, n. 2, p. 354, doi. 10.3390/genes13020354
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- Article
Global distribution of consanguinity and their impact on complex diseases: Genetic disorders from an endogamous population.
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- Egyptian Journal of Medical Human Genetics, 2017, v. 18, n. 4, p. 315, doi. 10.1016/j.ejmhg.2017.01.002
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- Publication type:
- Article
Consanguinity and Eye Diseases with a Potential Genetic Etiology. Data from a Prevalence Study in Andhra Pradesh, India.
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- Ophthalmic Epidemiology, 2006, v. 13, n. 1, p. 7, doi. 10.1080/09286580500473795
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- Article
Consanguinity and genetic diseases in North Africa and immigrants to Europe.
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- 2014
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- Journal Article
Multicentre approaches to donor insemination in the French CECOS Federation: Nationwide evaluation, donor matching, screening for genetic diseases and consanguinity.
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- Human Reproduction, 1998, v. 13, n. suppl_2, p. 35, doi. 10.1093/humrep/13.suppl_2.35
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- Publication type:
- Article
The known and unknown about attention deficit hyperactivity disorder (ADHD) genetics: a special emphasis on Arab population.
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- Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1405453
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- Publication type:
- Article
Whole‐exome sequencing of a Saudi epilepsy cohort reveals association signals in known and potentially novel loci.
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- Human Genomics, 2022, v. 16, n. 1, p. 1, doi. 10.1186/s40246-022-00444-6
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- Publication type:
- Article
Molecular Genetic Analysis of a Consanguineous South Indian Family with Congenital Glaucoma: Relevance of Genetic Testing and Counseling.
- Published in:
- Ophthalmic Genetics, 2007, v. 28, n. 1, p. 17, doi. 10.1080/13816810701199449
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- Publication type:
- Article
Consanguinity and its relevance to clinical genetics.
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- Egyptian Journal of Medical Human Genetics, 2013, v. 14, n. 2, p. 157, doi. 10.1016/j.ejmhg.2013.01.002
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- Publication type:
- Article
Ancestral origins of TYR and OCA2 gene mutations in oculocutaneous albinism from two admixed populations in Colombia.
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- PLoS ONE, 2024, v. 19, n. 11, p. 1, doi. 10.1371/journal.pone.0313777
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- Publication type:
- Article
避雨栽培下不同酿酒葡萄品种白粉病抗性调查与分析.
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- Southwest China Journal of Agricultural Sciences, 2018, v. 31, n. 5, p. 986, doi. 10.16213/j.cnki.scjas.2018.5.018
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- Publication type:
- Article
Maladies génétiques rares dans la région MENA (Moyen-Orient et Afrique du Nord) : enjeux, particularités régionales et perspectives d'avenir.
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- Annales de Biologie Clinique, 2024, v. 82, n. 5, p. 592, doi. 10.1684/abc.2024.1916
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- Article
HLA DR phenotypic frequencies and genetic risk of Type 1 diabetes in west region of Algeria, Tlemcen.
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- BMC Genetics, 2004, v. 5, p. 24, doi. 10.1186/1471-2156-5-24
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- Publication type:
- Article
A Patient Homozygous for the E200K Mutation from a Family of the Slovak Cluster of Genetic Creutzfeldt-Jakob Disease.
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- 2016
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- Case Study
Overview of typical dental abnormalities in rare genetic syndromes occurring in the Czech Roma population.
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- Bratislava Medical Journal / Bratislavské Lekárske Listy, 2024, v. 125, n. 12, p. 807, doi. 10.4149/BLL_2024_124
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- Publication type:
- Article
A cross-sectional survey of multi-generation inflammatory bowel disease consanguinity and its relationship with disease onset.
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- Saudi Journal of Gastroenterology, 2017, v. 23, n. 6, p. 337, doi. 10.4103/sjg.SJG_125_17
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- Publication type:
- Article
Propuesta de protocolo de estudio en casos de consanguinidad. Factor de malformaciones congénitas en pediatría y estomatología.
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- Revista Oral, 2014, v. 15, n. 48, p. 1123
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- Publication type:
- Article
Prevalence and Perception of Women about Consanguineous Marriage in Al-Ramadi City.
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- Indian Journal of Public Health Research & Development, 2019, v. 10, n. 4, p. 567, doi. 10.5958/0976-5506.2019.00758.7
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- Publication type:
- Article
Screening of Obese Offspring of First-Cousin Consanguineous Subjects for the Angiotensin-Converting Enzyme Gene with a 287-bp Alu Sequence.
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- Journal of Obesity & Metabolic Syndrome, 2021, v. 30, n. 1, p. 63, doi. 10.7570/jomes20086
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- Article
Ophthalmologic Manifestations of Wolfram Syndrome: Report of 14 Cases.
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- 2019
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- Publication type:
- Case Study
Consanguinity, complex diseases and congenital disabilities in the Souss population (Southern Morocco): a cross-sectional survey.
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- Egyptian Journal of Medical Human Genetics, 2024, v. 25, n. 1, p. 1, doi. 10.1186/s43042-024-00490-w
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- Publication type:
- Article
Consanguinity in the Chaouia population (Morocco): prevalence, trends, determinants, fertility, and spontaneous abortions.
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- Egyptian Journal of Medical Human Genetics, 2022, v. 23, n. 1, p. 1, doi. 10.1186/s43042-022-00337-2
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- Publication type:
- Article
Assessment of genetic familiarity and genetic knowledge among Palestinian university students.
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- BMC Medical Education, 2024, v. 24, n. 1, p. 1, doi. 10.1186/s12909-023-04996-6
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- Publication type:
- Article
Molecular characterization of Egyptian patients with glycogen storage disease type IIIa.
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- Journal of Human Genetics, 2005, v. 50, n. 10, p. 538, doi. 10.1007/s10038-005-0291-3
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- Publication type:
- Article
Prevalence of Consanguineous Marriages in UAE Nationals and the Risk of Genetic Diseases.
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- Journal of Medicine, 2023, v. 24, n. 2, p. 82, doi. 10.3329/jom.v24i2.67269
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- Publication type:
- Article
Comorbidity in the Tunisian population.
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- Clinical Genetics, 2016, v. 89, n. 3, p. 312, doi. 10.1111/cge.12616
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- Publication type:
- Article
Gene Therapy for Duchenne Muscular Dystrophy: Unlocking the Opportunities in Countries in the Middle East and Beyond.
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- Journal of Neuromuscular Diseases, 2022, v. 9, n. 6, p. 787, doi. 10.3233/JND-221528
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- Publication type:
- Article
THE CHANGING PROFILE OF CONSANGUINITY RATES IN BAHRAIN, 1990–2009.
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- Journal of Biosocial Science, 2012, v. 44, n. 3, p. 313, doi. 10.1017/S0021932011000666
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- Article
Uncovering myocardial infarction genetic signatures using GWAS exploration in Saudi and European cohorts.
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- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-49105-1
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- Article
Specific Aspects of Consanguinity: Some Examples from the Tunisian Population.
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- Human Heredity, 2014, v. 77, n. 1-4, p. 167, doi. 10.1159/000362167
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- Publication type:
- Article
Does anonymous sperm donation increase the risk for unions between relatives and the incidence of autosomal recessive diseases due to consanguinity?
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- Human Reproduction, 2014, v. 29, n. 3, p. 394, doi. 10.1093/humrep/det452
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- Article
Genetics of Obesity in Consanguineous Populations: Toward Precision Medicine and the Discovery of Novel Obesity Genes.
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- 2018
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- Publication type:
- journal article
The Knowledge and the Attitude of Youth Couples On/Towards Consanguineous Marriages in the North of Iran.
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- Journal of Clinical & Diagnostic Research, 2012, v. 6, n. 7, p. 1233
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- Publication type:
- Article
Analysis of the GJB2 Gene and its Mutated Protein in Non-Syndromic Hearing Loss Patients of Gilgit-Baltistan.
- Published in:
- Pakistan Journal of Zoology, 2022, v. 54, n. 4, p. 1607, doi. 10.17582/journal.pjz/20200527140529
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- Publication type:
- Article
Prevalence of β-thalassemic Patients Associated With Consanguinity and Anti-HCV - Antibody Positivity -- A Cross Sectional Study.
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- Pakistan Journal of Zoology, 2011, v. 43, n. 1, p. 29
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- Publication type:
- Article
Expanding families: a pilot study on preconception expanded carrier screening in Bahrain.
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- BMC Pregnancy & Childbirth, 2024, v. 24, n. 1, p. 1, doi. 10.1186/s12884-024-06878-1
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- Publication type:
- Article
Genomics in Pakistan: Current Status and Challenges.
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- 2019
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- Publication type:
- Abstract
Consanguinity and inherited epilepsies.
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- Neurology Asia, 2011, v. 16, n. S, p. 11
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- Publication type:
- Article
'Aysha': genetics education and community engagement in a consanguineous Arab-Bedouin population in Israel.
- Published in:
- 2003
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- Publication type:
- Journal Article
'&Acaron;': genetics education and community engagement in a condanguineous Arab-Bedouin population in Israel.
- Published in:
- Health: An Interdisciplinary Journal for the Social Study of Health, Illness & Medicine, 2003, v. 7, n. 4, p. 439, doi. 10.1177/13634593030074004
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- Publication type:
- Article
THE CASE FOR AN UNREGULATED PRIVATE SPERM DONATION MARKET.
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- UCLA Women's Law Journal, 2013, v. 20, n. 1, p. 1, doi. 10.5070/l3201018045
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- Publication type:
- Article
Consanguinity pattern and heritability of Vitiligo in Arar, Saudi Arabia.
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- Journal of Family & Community Medicine, 2014, v. 21, n. 1, p. 13, doi. 10.4103/2230-8229.128767
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- Publication type:
- Article