Zoekresultaten - "mutation"

Paediatric autoimmune diseases with ELANE mutations associated with neutropenia door Dan Zhang, Gaixiu Su, Sheng Hao, Jianming Lai, Shunqiao Feng

Connect to this object online.

Mutational signatures among young-onset testicular cancers door Nicole E. Mealey, Dylan E. O'Sullivan, Cheryl E. Peters, Daniel Y. C. Heng, Darren R. Brenner

Connect to this object online.

HLA haplotypes associated with hemochromatosis mutations in the Spanish population door García-Berciano Miguel, Oliver Desamparados, Castro Maria J, del Rey Manuel J, Mancebo Esther, Pacho Arantza, González Luis, Morales Pablo

Connect to this object online.

Oculoectodermal Syndrome - Encephalocraniocutaneous Lipomatosis Associated with NRAS Mutation door Renée J.H. Richters, Marieke M.B. Seyger, Kim A.P. Meeuwis, Tuula Rinne, Astrid Eijkelenboom, Michèl A. Willemsen

Connect to this object online.

BRCA mutation in high grade epithelial ovarian cancers door Tarinee Manchana, Natacha Phoolcharoen, Patou Tantbirojn

Connect to this object online.

Novel MYBPC3 Mutations in Indian Population with Cardiomyopathies door Rani DS, Kasala A, Dhandapany PS, Muthusami U, Kunnoth S, Rathinavel A, Ayapati DR, Thangaraj K

Connect to this object online.

Mutation in a Child with Recurrent Acute Necrotizing Encephalopathy door Sung Hye Park, Dong Hyun Kim, Young Se Kwon

Connect to this object online.

Phenotype of Mitochondrial DNA 3243A > G Mutation door J Gordon Millichap

Connect to this object online.

Correction to: FLAGS, frequently mutated genes in public exomes door Casper Shyr, Maja Tarailo-Graovac, Michael Gottlieb, Jessica JY Lee, Clara van Karnebeek, Wyeth W Wasserman

Connect to this object online.

William Jackson Schull and mutation studies on human cohorts door Tomoko Y. Steen

Connect to this object online.

Pertussis Vaccination, Epilepsy and SCN1A Mutation door J Gordon Millichap

Connect to this object online.

Mutation profiles of oral squamous cell carcinoma cells door Xun Chen, Wei Zhao, Shangwu Chen, Dongsheng Yu

Connect to this object online.

Mutation Breeding in Coffee with Special Reference to Leaf Rust Protocols

Onderwerpen: “…Mutation Breeding…”
OAPEN Library: download the publication
OAPEN Library: description of the publication

DNA damage response and repair gene mutations are associated with tumor mutational burden and outcomes to platinum-based chemotherapy/immunotherapy in advanced NSCLC patients door Weiguang Gu, Wenya Zhuang, Mengxia Zhuang, Minhong He, Zhihua Li

Connect to this object online.

Mutation-Specific Phenotypes in hiPSC-Derived Cardiomyocytes Carrying Either Myosin-Binding Protein C Or α-Tropomyosin Mutation for Hypertrophic Cardiomyopathy door Marisa Ojala, Chandra Prajapati, Risto-Pekka Pölönen, Kristiina Rajala, Mari Pekkanen-Mattila, Jyrki Rasku, Kim Larsson, Katriina Aalto-Setälä

Connect to this object online.

A novel somatic mutation in POLE exonuclease domain associated with ultra-mutational signature and MMR deficiency in endometrial cancer: a case report door Jiantao Cui, Xiuying Chen, Qian Zhai, Na Chen, Xiaodan Li, Yuli Zhang, Hui Wang, Xin Bian, Na Gao, Deyi Chen, Zhihong Chen, Shibiao Zhang, Yan Chen

Connect to this object online.

A novel targeted NGS panel identifies numerous homologous recombination deficiency (HRD)-associated gene mutations in addition to known BRCA mutations door Anne Vogel, Anna Haupts, Michael Kloth, Wilfried Roth, Nils Hartmann

Connect to this object online.

Genomic heterogeneity at baseline is associated with T790M resistance mutations in EGFR‐mutated lung cancer treated with the first‐/second‐generation tyrosine kinase inhibitors door Michael Menzel, Martina Kirchner, Klaus Kluck, Markus Ball, Susanne Beck, Michael Allgäuer, Christin Assmann, Johannes Schnorbach, Anna‐Lena Volckmar, Timothy Kwang Yong Tay, Hannah Goldschmid, Daniel SW Tan, Michael Thomas, Daniel Kazdal, Jan Budczies, Albrecht Stenzinger, Petros Christopoulos

Connect to this object online.

Neurofibromatosis Type 1 and Hypospadias in a Male 46, XY with a Mutation in the NF1 Gene and a Mutation in NR5A1 door Perafan-Valdes L, Giraldo-Ocampo S, Lores J, Pachajoa H

Connect to this object online.

An unprecedented COPA gene mutation in two patients in the same family: comparative clinical analysis of newly reported patients with other known COPA gene mutations door Anjali Patwardhan, Charles H. Spencer

Connect to this object online.