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Academic Journal

Genetic investigation of XPA gene: high frequency of the c.682C>T mutation in Moroccan XP patients with moderate clinical profile.

Authors : Kindil, Zineb^1,2; Senhaji, Mohamed Amine¹; Bakhchane, Amina¹

Source: BMC Research Notes. 12/6/2017, Vol. 10, p1-6. 6p. 2 Diagrams, 3 Charts.

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Academic Journal

Mitochondrial DNA mutation load in a family with the m.8344A>G point mutation and lipomas: a case study.

Authors : Jeppesen, Tina Dysgaard¹ ; Al‐Hashimi, Noor¹; Duno, Morten²

Source: Clinical Case Reports. Dec2017, Vol. 5 Issue 12, p2034-2039. 6p.

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Academic Journal

Addressing mutation testing problems by applying multi-objective optimization algorithms and higher order mutation.

Authors : Quang Vu Nguyen¹; Madeyski, Lech²

Source: Journal of Intelligent & Fuzzy Systems. 2017, Vol. 32 Issue 2, p1173-1182. 10p.

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Academic Journal

A novel mutation in the STK11 gene causes heritable Peutz-Jeghers syndrome - a case report.

Authors : Jing-Hui Chen¹; Jing-Jing Zheng²; Qin Guo³

Source: BMC Medical Genetics. 2/23/2017, Vol. 18, p1-6. 6p.

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Academic Journal

De novo mutational profile in RB1 clarified using a mutation rate modeling algorithm.

Authors : Aggarwala, Varun¹; Ganguly, Arupa^2,3,4 ; Voight, Benjamin F.^2,3,5,6

Source: BMC Genomics. 2/14/2017, Vol. 18, p1-14. 14p. 1 Diagram, 3 Charts, 5 Graphs.

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Academic Journal

Sanger sequencing in exonic regions of STK11 gene uncovers a novel de-novo germline mutation (c.962_963delCC) associated with Peutz-Jeghers syndrome and elevated cancer risk: case report of a Chinese patient.

Authors : Zi-Ye Zhao¹; Yu-Liang Jiang^2,3; Bai-Rong Li³

Source: BMC Medical Genetics. 11/15/2017, Vol. 18, p1-6. 6p.

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Academic Journal

Predictors of EGFR mutation and factors associated with clinical tumor stage at diagnosis: Experience of the INSIGHT study in Poland.

Authors : RAMLAU, RODRYG¹ ; KRAWCZYK, PAWEŁ²; DZIADZIUSZKO, RAFAŁ³

Source: Oncology Letters. Nov2017, Vol. 14 Issue 5, p5611-5618. 8p.

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Academic Journal

Structural insight into the role of Gln293Met mutation on the Peloruside A/Laulimalide association with αβ-tubulin from molecular dynamics simulations, binding free energy calculations and weak interactions analysis.

Authors : Zúñiga, Matías¹ ; Alderete, Joel²; Jaña, Gonzalo¹

Source: Journal of Computer-Aided Molecular Design. Jul2017, Vol. 31 Issue 7, p643-652. 10p.

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Academic Journal

Improved imperialist competitive algorithm with mutation operator for continuous optimization problems.

Authors : Xu, Shuhui; Wang, Yong ; Lu, Peichuan

Source: Neural Computing & Applications. Jul2017, Vol. 28 Issue 7, p1667-1682. 16p.

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Academic Journal

Genetic analysis of a hereditary factor XII deficiency pedigree of a consanguineous marriage due to a homozygous F12 gene mutation: Gly341Arg.

Authors : Cheng, Xiaoli¹ (AUTHOR); Yang, Lihong¹ (AUTHOR); Huang, Guoyong¹ (AUTHOR)

Source: Hematology. Jun2017, Vol. 22 Issue 5, p310-315. 6p.

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نتائج البحث

فلترة النتائج

Genetic investigation of XPA gene: high frequency of the c.682C>T mutation in Moroccan XP patients with moderate clinical profile.

Mitochondrial DNA mutation load in a family with the m.8344A>G point mutation and lipomas: a case study.

Addressing mutation testing problems by applying multi-objective optimization algorithms and higher order mutation.

A novel mutation in the STK11 gene causes heritable Peutz-Jeghers syndrome - a case report.

De novo mutational profile in RB1 clarified using a mutation rate modeling algorithm.

Sanger sequencing in exonic regions of STK11 gene uncovers a novel de-novo germline mutation (c.962_963delCC) associated with Peutz-Jeghers syndrome and elevated cancer risk: case report of a Chinese patient.

Predictors of EGFR mutation and factors associated with clinical tumor stage at diagnosis: Experience of the INSIGHT study in Poland.

Structural insight into the role of Gln293Met mutation on the Peloruside A/Laulimalide association with αβ-tubulin from molecular dynamics simulations, binding free energy calculations and weak interactions analysis.

Improved imperialist competitive algorithm with mutation operator for continuous optimization problems.

Genetic analysis of a hereditary factor XII deficiency pedigree of a consanguineous marriage due to a homozygous F12 gene mutation: Gly341Arg.

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