Compound heterozygous trang 1 tải miễn phí từ tailieunhanh

"Compound heterozygous" trang 1 - tải miễn phí từ tailieunhanh

Lethal perinatal hypophosphatasia caused by a novel compound heterozygous mutation: A case report

Lethal perinatal hypophosphatasia caused by a novel compound heterozygous mutation: A case report

5 42 0

TRMA syndrome with a severe phenotype, cerebral infarction, and novel compound heterozygous SLC19A2 mutation: A case report

TRMA syndrome with a severe phenotype, cerebral infarction, and novel compound heterozygous SLC19A2 mutation: A case report

6 52 0

Genetic investigation confirmed the clinical phenotype of congenital chloride diarrhea in a Hungarian patient: A case report

Genetic investigation confirmed the clinical phenotype of congenital chloride diarrhea in a Hungarian patient: A case report

4 92 0

A novel compound heterozygous mutation of the SMARCAL1 gene leading to mild Schimke immune-osseous dysplasia: A case report

A novel compound heterozygous mutation of the SMARCAL1 gene leading to mild Schimke immune-osseous dysplasia: A case report

6 84 0

Novel compound heterozygous mutations of DNAH5 identifed in a pediatric patient with Kartagener syndrome: Case report and literature review

Novel compound heterozygous mutations of DNAH5 identifed in a pediatric patient with Kartagener syndrome: Case report and literature review

6 28 1

Waardenburg syndrome type 4 coexisting with open-angle glaucoma: A case report

Waardenburg syndrome type 4 coexisting with open-angle glaucoma: A case report

11 1 1

Direct sequencing of β-globin gene reveals a rare combination of two exonic and two intronic variants in a β-thalassemia major patient: A case report

Direct sequencing of β-globin gene reveals a rare combination of two exonic and two intronic variants in a β-thalassemia major patient: A case report

5 1 1

A novel ADAMTSL4 compound heterozygous mutation in isolated ectopia lentis: A case report and review of the literature

A novel ADAMTSL4 compound heterozygous mutation in isolated ectopia lentis: A case report and review of the literature

7 8 1

Compound heterozygous POMGNT1 mutations leading to muscular dystrophydystroglycanopathy type A3: A case report

Compound heterozygous POMGNT1 mutations leading to muscular dystrophydystroglycanopathy type A3: A case report

8 44 0