Keywords: انسانی; Inherited metabolic disease; Consanguinity; Ethnic group; Neonatal screening;
مقالات ISI انسانی (ترجمه نشده)
مقالات زیر هنوز به فارسی ترجمه نشده اند.
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در صورتی که به ترجمه آماده هر یک از مقالات زیر نیاز داشته باشید، می توانید سفارش دهید تا مترجمان با تجربه این مجموعه در اسرع وقت آن را برای شما ترجمه نمایند.
Keywords: انسانی; Genetic heterogeneity; Hearing impairment; Consanguinity; Algeria;
Keywords: انسانی; Hereditary cancer susceptibility syndrome; Consanguinity; Clinical assessment;
Keywords: انسانی; Whole-exome sequencing; Consanguinity; Clinical exome interpretation; Diagnostic odyssey; Next-generation sequencing;
Keywords: انسانی; Consanguinity; Inbreeding; Global impact; Complex diseases; Counseling;
Keywords: انسانی; Arab countries; Human genome sequencing; Whole exome sequencing; Consanguinity; Endogamous marriage; Novel genes; Novel variants
Keywords: انسانی; Common variable immune deficiency (CVID); Follow up; Consanguinity; Age; Iran
Keywords: انسانی; Kin altruism; Indirect-reciprocal altruism; Inbreeding; Consanguinity; Tribalism;
Keywords: انسانی; Anophthalmia; Microphthalmia; ALDH1A3; FOXE3; VSX2; Consanguinity; Autosomal recessive; Whole exome sequencing; A/M; Anophthalmia/Microphthalmia; AR; Autosomal Recessive; AD; Autosomal Dominant; PCR; Polymerase Chain Reaction; SIFT; Sorting Intolerant Fro
Keywords: انسانی; Consanguinity; Complications; Follow-up; Iran; Manifestations; Mortality; Primary immune deficiency;
Keywords: انسانی; migrants; stillbirth; congenital abnormalities; socioeconomic factors; consanguinity; prenatal care;
Keywords: انسانی; Genetic disease; Sickle cell disease; Thalassemias; Public health; Newborn screening; Malaria selection; Consanguinity; Human migrations;
Keywords: انسانی; Consanguinity; Divorce; Survival of marriage
Keywords: انسانی; antral follicle count; AMH; consanguinity; female fertility; FSH; ovarian reserve;
Keywords: انسانی; Syndromic deafness; Congenital SNHL; JLN; Congenital rubella; Consanguinity
Keywords: انسانی; Epilepsy; Consanguinity; Risk factors; Oran; Algeria
Keywords: انسانی; Familial epilepsy; Inherited epilepsy; Consanguinity; Pedigree; Algeria;
Keywords: انسانی; Consanguinity; Exome sequencing; Preconception carrier screening; Autosomal recessive disorders;
Keywords: انسانی; Oral cysts; Consanguinity; Medication consumption; Neonate
Keywords: انسانی; Consanguinity; Consanguineous marriages; Gaza; Palestine
Keywords: انسانی; Glutaric acidemia type 1; Inborn errors of metabolism; Egypt; Genetics; Consanguinity; Newborn screening
Keywords: انسانی; Consanguinity; genetic disease; linkage analysis; gene discovery; identical by descent (IBD); homozygosity mapping; kidney research; pediatrics; population differences; Saudi Arabia;
Keywords: انسانی; Familial hypercholesterolemia; LDLR; PCSK9; Xanthomas; HRM; Consanguinity;
Keywords: انسانی; Newborn hearing screening (NHS) programme; Unilateral hearing loss (UHL); Risk factors; Consanguinity; Familial hearing loss;
Keywords: انسانی; Consanguinity; Inborn errors; Neurometabolic; Maple syrup; Tay–Sachs disease
Keywords: انسانی; Desmosterol; Inborn errors of metabolism; Cholesterol biosynthesis defect; Congenital anomalies; Consanguinity;
The Case for High Resolution Extended 6-Loci HLA Typing for Identifying Related Donors in the Indian Subcontinent
Keywords: انسانی; Bone marrow transplantation; Histocompatibility testing; HLA matching; Related donor; Consanguinity;
Progressive pseudorheumatoid dysplasia in North and West Africa: Clinical description in ten patients with mutations of WISP3
Keywords: انسانی; Bone; Dysplasia; Autosomal recessive; Mutation; WISP3; Consanguinity;
Original articleHyperekplexia: Report on phenotype and genotype of 16 Jordanian patients
Keywords: انسانی; Hyperekplexia; Misdiagnosis; Apnea; Nose tap; Consanguinity; Jordan;
SCN1A clinical spectrum includes the self-limited focal epilepsies of childhood
Keywords: انسانی; SCN1A; Panayiotopoulos syndrome; Consanguinity; GEFS+;
A founder mutation underlies a severe form of phosphoglutamase 3 (PGM3) deficiency in Tunisian patients
Keywords: انسانی; PGM3 deficiency; Congenital disorder of glycosylation; Glu340del founder mutation; Consanguinity;
Rare splicing defects of FAS underly severe recessive autoimmune lymphoproliferative syndrome
Keywords: انسانی; Alps; Autosomal recessive; Consanguinity; FAS; Splicing;
Clinical profile and mutation spectrum of long QT syndrome in Saudi Arabia: The impact of consanguinity
Keywords: انسانی; Long QT syndrome; KCNQ1; Consanguinity; Homozygous; Romano-Ward syndrome; Jervell and Lange-Nielsen syndrome;
Primary ciliary dyskinesia: Kartagener syndrome in a family with a novel DNAH5 gene mutation and variable phenotypes
Keywords: انسانی; B-T shunt; Blalock-Taussig shunt; IVF; in vitro fertilization; KS; Kartagener syndrome; KMGC; Kuwait Medical Genetics Centre; PGD; preimplantation genetic diagnosis; S/P; systemic-to-pulmonary; Arab; Consanguinity; DNAH5; Kartagener syndrome; Preimpla
Mutations in patients with osteogenesis imperfecta from consanguineous Indian families
Keywords: انسانی; OI; Autosomal recessive; SERPINF1; PPIB; CRTAP; WNT1; Homozygosity; Exome sequencing; Consanguinity; India
Gómez-López-Hernández Syndrome in a Child Born to Consanguineous Parents: New Evidence for an Autosomal-Recessive Pattern of Inheritance?
Keywords: انسانی; Gómez-López-Hernández syndrome; rhombencephalosynapsis; alopecia; craniosynostosis; consanguinity; cerebello-trigeminal-dermal dysplasia; genetic counseling;
Senior-Loken syndrome: A novel NPHP5 gene mutation in a family from Kuwait
Keywords: انسانی; ESRF, end stage renal failure; S-L, Senior-Loken; NPHP, nephronophthisis; BUN, blood urea nitrogenArab; Ciliopathy; Consanguinity; Nephronophthisis; Senior-Loken syndrome; Premarital counselling
Papillon–Lefevre syndrome: Reporting consanguinity as a risk factor
Keywords: انسانی; Papillon–Lefevre syndrome; Consanguinity; Periodontitis; Premature tooth loss
Oral manifestations of lipoid proteinosis: A case report and literature review
Keywords: انسانی; Acneiform scars; Consanguinity; Hoarseness; Lipoid proteinosis; Monoliform blepharosis
Consanguinité, schizophrénie et trouble bipolaire
Keywords: انسانی; Consanguinité; Génétique; Schizophrénie; Trouble bipolaireBipolar disorder; Consanguinity; Genetic; Inbreeding; Psychosis; Schizophrenia
MCPH1 deletion in a newborn with severe microcephaly and premature chromosome condensation
Keywords: انسانی; Cell cycle proteins; Array-based comparative genomic hybridization; Consanguinity; Cytogenetic analysis; Genes; Recessive; MCPH1 protein; Human; Microcephaly; Primary autosomal recessive 1; Premature chromosome condensation syndrome
Non-syndromic hearing impairment in a multi-ethnic population of Northeastern Brazil
Keywords: انسانی; Nonsyndromic hearing impairment; Connexin; GJB2; c.35delG; p.Arg75Gln; Consanguinity
Consanguinity and its relevance to clinical genetics
Keywords: انسانی; Consanguinity; Chromosomal abnormality; Genetic counseling; Child death; Homozygosity
Surname distribution in population genetics and in statistical physics
Keywords: انسانی; Surname distribution; Isonymy; Consanguinity; Yule process; Renormalization Group; Y chromosome
Homozygous deletion of a gene-free region of 4p15 in a child with multiple anomalies: Could biallelic loss of conserved, non-coding elements lead to a phenotype?
Keywords: انسانی; Chr 4p15.1; Homozygous deletion; Cognitive impairment; Deafness; Postaxial polydactyly; Mild dysmorphism; Consanguinity
Parental consanguinity and associated factors in congenital talipes equinovarus
Keywords: انسانی; CTEV; Consanguinity; Multifactorial; Idiopathic; Myelomeningocele
High prevalence of leptin and melanocortin-4 receptor gene mutations in children with severe obesity from Pakistani consanguineous families
Keywords: انسانی; Monogenic obesity; Congenital leptin deficiency; LEP; MC4R; Consanguinity
Clinical, immunologic and genetic profiles of DOCK8-deficient patients in Kuwait
Keywords: انسانی; DOCK8 deficiency; Combined immunodeficiency; IgE; Eczema; Consanguinity; Kuwait
Parental consanguineous marriages and clinical response to chemotherapy in locally advanced breast cancer patients
Keywords: انسانی; Consanguinity; Locally advanced breast cancer; Response to chemotherapy
Does telomere length mediate associations between inbreeding and increased risk for bipolar I disorder and schizophrenia?
Keywords: انسانی; Telomere length; Bipolar disorder; Schizophrenia; Inbreeding; Consanguinity; Association;