"gene mutation" trang 6 - tải miễn phí từ tailieunhanh
A two-headed calf – Case report

A two-headed calf – Case report
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Congenital emphysematous lung disease associated with a novel Filamin A mutation: Case report and literature review

Congenital emphysematous lung disease associated with a novel Filamin A mutation: Case report and literature review
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A novel UGT1A1 gene mutation causing severe unconjugated hyperbilirubinemia: A case report

A novel UGT1A1 gene mutation causing severe unconjugated hyperbilirubinemia: A case report
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EIF2AK3 novel mutation in a child with early-onset diabetes mellitus, a case report

EIF2AK3 novel mutation in a child with early-onset diabetes mellitus, a case report
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Intermittent low platelet counts hampering diagnosis of X-linked thrombocytopenia in children: Report of two unrelated cases and a novel mutation in the gene coding for the Wiskott-Aldrich syndrome protein

Intermittent low platelet counts hampering diagnosis of X-linked thrombocytopenia in children: Report of two unrelated cases and a novel mutation in the gene coding for the Wiskott-Aldrich syndrome protein
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Recurrent c.G1636A (p.G546S) mutation of COL2A1 in a Chinese family with skeletal dysplasia and different metaphyseal changes: A case report

Recurrent c.G1636A (p.G546S) mutation of COL2A1 in a Chinese family with skeletal dysplasia and different metaphyseal changes: A case report
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GM2 gangliosidosis AB variant: Novel mutation from India – a case report with a review

GM2 gangliosidosis AB variant: Novel mutation from India – a case report with a review
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Mandibuloacral dysplasia type A-associated progeria caused by homozygous LMNA mutation in a family from Southern China

Mandibuloacral dysplasia type A-associated progeria caused by homozygous LMNA mutation in a family from Southern China
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Improved CRISPR/Cas9 gene editing by fluorescence activated cell sorting of green fluorescence protein tagged protoplasts

Improved CRISPR/Cas9 gene editing by fluorescence activated cell sorting of green fluorescence protein tagged protoplasts
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Cyclic neutropenia with a novel gene mutation presenting with a necrotizing soft tissue infection and severe sepsis: Case report

Cyclic neutropenia with a novel gene mutation presenting with a necrotizing soft tissue infection and severe sepsis: Case report
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Lethal course of meconium ileus in preterm twins revealing a novel cystic fibrosis mutation (p.Cys524Tyr)

Lethal course of meconium ileus in preterm twins revealing a novel cystic fibrosis mutation (p.Cys524Tyr)
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Sequential and counter-selectable cassettes for fission yeast

Sequential and counter-selectable cassettes for fission yeast
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The loss-of-function GLABROUS 3 mutation in cucumber is due to LTR-retrotransposon insertion in a class IV HD-ZIP transcription factor gene CsGL3 that is epistatic over CsGL1

The loss-of-function GLABROUS 3 mutation in cucumber is due to LTR-retrotransposon insertion in a class IV HD-ZIP transcription factor gene CsGL3 that is epistatic over CsGL1
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Eosinophilic colitis in a boy with a novel XIAP mutation: A case report

Eosinophilic colitis in a boy with a novel XIAP mutation: A case report
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A case report of one vasovagal syncope patient with third-degree atrioventricular block caused by SCN5A gene mutation and literature review

A case report of one vasovagal syncope patient with third-degree atrioventricular block caused by SCN5A gene mutation and literature review
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Nrf2 gene mutation and single nucleotide polymorphism rs6721961 of the Nrf2 promoter region in renal cell cancer

Nrf2 gene mutation and single nucleotide polymorphism rs6721961 of the Nrf2 promoter region in renal cell cancer
9    92    0
Treatment of consistent BRAF/HRAS gene mutation and MYC amplification radiationinduced abdominal wall angiosarcoma with low-dose apatinib: A case report

Treatment of consistent BRAF/HRAS gene mutation and MYC amplification radiationinduced abdominal wall angiosarcoma with low-dose apatinib: A case report
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Clinical management and outcome of patients with advanced NSCLC carrying EGFR mutations in Spain

Clinical management and outcome of patients with advanced NSCLC carrying EGFR mutations in Spain
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Is RNASEL:P.Glu265* a modifier of early-onset breast cancer risk for carriers of high-risk mutations

Is RNASEL:P.Glu265* a modifier of early-onset breast cancer risk for carriers of high-risk mutations
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The identification of H3F3A mutation in giant cell tumour of the clivus and the histological diagnostic algorithm of other clival lesions permit the differential diagnosis in this location

The identification of H3F3A mutation in giant cell tumour of the clivus and the histological diagnostic algorithm of other clival lesions permit the differential diagnosis in this location
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