"Genetic syndrome" trang 1 - tải miễn phí từ tailieunhanh
The association of megalin and cubilin genetic variants with serum levels of 25-hydroxvitamin D and the incidence of acute coronary syndrome in Egyptians: A case control study

The association of megalin and cubilin genetic variants with serum levels of 25-hydroxvitamin D and the incidence of acute coronary syndrome in Egyptians: A case control study
8    76    0
Crigler-Najjar syndrome type II in a Chinese boy resulting from three mutations in the bilirubin uridine 5′-diphosphate-glucuronosyltransferase (UGT1A1) gene and a family genetic analysis

Crigler-Najjar syndrome type II in a Chinese boy resulting from three mutations in the bilirubin uridine 5′-diphosphate-glucuronosyltransferase (UGT1A1) gene and a family genetic analysis
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Shared genetic susceptibilities for irritable bowel syndrome and depressive disorder in Chinese patients uncovered by pooled whole-exome sequencing

Shared genetic susceptibilities for irritable bowel syndrome and depressive disorder in Chinese patients uncovered by pooled whole-exome sequencing
9    97    0
The mutational burden and oligogenic inheritance in Klippel-Feil syndrome

The mutational burden and oligogenic inheritance in Klippel-Feil syndrome
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The global carrier frequency and genetic prevalence of Upshaw-Schulman syndrome

The global carrier frequency and genetic prevalence of Upshaw-Schulman syndrome
8    10    1
New population-based exome data question the pathogenicity of some genetic variants previously associated with Marfan syndrome

New population-based exome data question the pathogenicity of some genetic variants previously associated with Marfan syndrome
8    16    1
Clinical and genetic study of 20 patients from China with Cornelia de Lange syndrome

Clinical and genetic study of 20 patients from China with Cornelia de Lange syndrome
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A de novo missense mutation of FGFR2 causes facial dysplasia syndrome in Holstein cattle

A de novo missense mutation of FGFR2 causes facial dysplasia syndrome in Holstein cattle
9    9    1
Classification of genetic variants in genes associated with Lynch syndrome using a clinical history weighting algorithm

Classification of genetic variants in genes associated with Lynch syndrome using a clinical history weighting algorithm
8    13    1
Intussusception reveals MUTYH-associated polyposis syndrome and colorectal cancer: A case report

Intussusception reveals MUTYH-associated polyposis syndrome and colorectal cancer: A case report
5    50    1
Identification and in silico analysis of GALNS mutations causing Morquio A syndrome in eight consanguineous families

Identification and in silico analysis of GALNS mutations causing Morquio A syndrome in eight consanguineous families
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Clinical and genetic Rett syndrome variants are defined by stable electrophysiological profiles

Clinical and genetic Rett syndrome variants are defined by stable electrophysiological profiles
15    48    0
Genomic copy number variations in the myelodysplastic syndrome and acute myeloid leukemia patientswith del(5q) and/or -7/del(7q)

Genomic copy number variations in the myelodysplastic syndrome and acute myeloid leukemia patientswith del(5q) and/or -7/del(7q)
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Is the Apert foot an overlooked aspect of this rare genetic disease? Clinical findings and treatment options for foot deformities in Apert syndrome

Is the Apert foot an overlooked aspect of this rare genetic disease? Clinical findings and treatment options for foot deformities in Apert syndrome
7    29    1
Novel genetic variant of HPS1 gene in Hermansky-Pudlak syndrome with fulminant progression of pulmonary fibrosis: A case report

Novel genetic variant of HPS1 gene in Hermansky-Pudlak syndrome with fulminant progression of pulmonary fibrosis: A case report
6    17    1
Investigating mechanisms underlying genetic resistance to Salmon Rickettsial Syndrome in Atlantic salmon using RNA sequencing

Investigating mechanisms underlying genetic resistance to Salmon Rickettsial Syndrome in Atlantic salmon using RNA sequencing
13    37    1
Association of serum 25-hydroxyvitamin D with metabolic syndrome and type 2 diabetes: A one sample Mendelian randomization study

Association of serum 25-hydroxyvitamin D with metabolic syndrome and type 2 diabetes: A one sample Mendelian randomization study
12    24    2
Characterization of the contribution of shared environmental and genetic factors to metabolic syndrome methylation heritability and familial correlations

Characterization of the contribution of shared environmental and genetic factors to metabolic syndrome methylation heritability and familial correlations
8    14    1
Successful use of emapalumab in refractory hemophagocytic lymphohistiocytosis in a child with Chédiak–Higashi syndrome: A case report

Successful use of emapalumab in refractory hemophagocytic lymphohistiocytosis in a child with Chédiak–Higashi syndrome: A case report
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Kagami–Ogata syndrome: A case report

Kagami–Ogata syndrome: A case report
4    1    1