"Familial colorectal cancer type X" trang 1 - tải miễn phí từ tailieuXANH
Fitting the pieces of the puzzle together: A case report of the Dunnigan-type of familial partial lipodystrophy in the adolescent girl

Fitting the pieces of the puzzle together: A case report of the Dunnigan-type of familial partial lipodystrophy in the adolescent girl
6    59    0
Long-term clinical outcome and phenotypic variability in hyperphosphatemic familial tumoral calcinosis and hyperphosphatemic hyperostosis syndrome caused by a novel GALNT3 mutation; case report and review of the literature

Long-term clinical outcome and phenotypic variability in hyperphosphatemic familial tumoral calcinosis and hyperphosphatemic hyperostosis syndrome caused by a novel GALNT3 mutation; case report and review of the literature
9    2    1
Familial achalasia with an autosomal dominant pattern of inherence: Report of a Vietnamese family

Familial achalasia with an autosomal dominant pattern of inherence: Report of a Vietnamese family
4    63    1
Báo cáo y học:

Báo cáo y học: "Familial Polycythemia Caused by a Novel Mutation in the Beta Globin Gene: Essential Role of P50 in Evaluation of Familial Polycythemi"
5    62    0
Detecting familial defective apolipoprotein B-100 R3500Q in Vietnamese patients by PCR-sequencing

Detecting familial defective apolipoprotein B-100 R3500Q in Vietnamese patients by PCR-sequencing
8    43    0
Identification of mutations in exons 3 and 4 of the LDL-Receptor gene in patients with familial hypercholesterolemia

Identification of mutations in exons 3 and 4 of the LDL-Receptor gene in patients with familial hypercholesterolemia
8    80    1
Selective screening for familial hypercholesterolemia in Austrian children - first year results

Selective screening for familial hypercholesterolemia in Austrian children - first year results
7    77    0
Heterozygous familial hypercholesterolaemia in a pair of identical twins: A case report and updated review

Heterozygous familial hypercholesterolaemia in a pair of identical twins: A case report and updated review
8    52    0
The contribution of large genomic rearrangements in BRCA1 and BRCA2 to South African familial breast cancer

The contribution of large genomic rearrangements in BRCA1 and BRCA2 to South African familial breast cancer
11    73    0
Cancer risks in Lynch syndrome, Lynch-like syndrome, and familial colorectal cancer type X: A prospective cohort study

Cancer risks in Lynch syndrome, Lynch-like syndrome, and familial colorectal cancer type X: A prospective cohort study
11    69    0
Comprehensive mutation detection of BRCA1/2 genes reveals large genomic rearrangements contribute to hereditary breast and ovarian cancer in Chinese women

Comprehensive mutation detection of BRCA1/2 genes reveals large genomic rearrangements contribute to hereditary breast and ovarian cancer in Chinese women
8    82    0
Oestrogen receptor beta isoform expression in sporadic colorectal cancer, familial adenomatous polyposis and progressive stages of colorectal cancer

Oestrogen receptor beta isoform expression in sporadic colorectal cancer, familial adenomatous polyposis and progressive stages of colorectal cancer
12    70    0
Prevalence of BRCA mutations among hereditary breast and/or ovarian cancer patients in Arab countries: Systematic review and meta-analysis

Prevalence of BRCA mutations among hereditary breast and/or ovarian cancer patients in Arab countries: Systematic review and meta-analysis
12    67    0
Whole-exome sequencing of a rare case of familial childhood acute lymphoblastic leukemia reveals putative predisposing mutations in Fanconi anemia genes

Whole-exome sequencing of a rare case of familial childhood acute lymphoblastic leukemia reveals putative predisposing mutations in Fanconi anemia genes
9    71    0
Family-specific, novel, deleterious germline variants provide a rich resource to identify genetic predispositions for BRCAx familial breast cancer

Family-specific, novel, deleterious germline variants provide a rich resource to identify genetic predispositions for BRCAx familial breast cancer
11    64    0
Constitutional CHEK2 mutations are infrequent in early-onset and familial breast/ovarian cancer patients from Pakistan

Constitutional CHEK2 mutations are infrequent in early-onset and familial breast/ovarian cancer patients from Pakistan
7    61    0
Germline variation networks in the PI3K/ AKT pathway corresponding to familial high-incidence lung cancer pedigrees

Germline variation networks in the PI3K/ AKT pathway corresponding to familial high-incidence lung cancer pedigrees
10    46    1
Clinical characteristics of patients with familial idiopathic pulmonary fibrosis (f-IPF)

Clinical characteristics of patients with familial idiopathic pulmonary fibrosis (f-IPF)
13    45    1
Transcriptome analyses of 7-day-old zebrafish larvae possessing a familial Alzheimer’s disease-like mutation in psen1 indicate effects on oxidative phosphorylation, ECM and MCM functions, and iron homeostasis

Transcriptome analyses of 7-day-old zebrafish larvae possessing a familial Alzheimer’s disease-like mutation in psen1 indicate effects on oxidative phosphorylation, ECM and MCM functions, and iron homeostasis
16    31    1
Mapping psychosocial interventions in familial colorectal cancer: A rapid systematic review

Mapping psychosocial interventions in familial colorectal cancer: A rapid systematic review
9    181    2
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