Arama Sonuçları - "mutation"

An updated mutation spectrum of the γ-secretase complex: Novel NCSTN gene mutation in an Indian family with hidradenitis suppurativa and acne conglobata Yazar: Uppala Ratnamala, Nayan K Jain, Devendrasinh D Jhala, Pullabatla V S. Prasad, Nazia Saiyed, Sreelatha Nair, Uppala Radhakrishna

Connect to this object online.

Report of a New Mutation and Frequency of Connexin 26 gene (GJB2) Mutations in Patients from Three Provinces of Iran Yazar: A Hosseinipour, M Hashemzadeh Chaleshtori, R Sasanfar, DD Farhud, A Tolooi, M Doulati, L Hoghooghi Rad, M Montazer zohour, M Ghadami

Connect to this object online.

Two Novel AGXT Mutations Cause the Infantile Form of Primary Hyperoxaluria Type I in a Chinese Family: Research on Missed Mutation Yazar: Xiulan Lu, Xiulan Lu, Weijian Chen, Weijian Chen, Liping Li, Xinyuan Zhu, Caizhi Huang, Saijun Liu, Yongjia Yang, Yaowang Zhao, Yaowang Zhao

Connect to this object online.

Screening for ELANE, HAX1 and GFI1 gene mutations in children with neutropenia and clinical characterization of two novel mutations in ELANE gene Yazar: Patcharee Komvilaisak, Najwa Yudhasompop, Kittima Kanchanakamhaeng, Suradej Hongeng, Samart Pakakasama, Usanarat Anurathapan, Pongpak Pongphitcha, Duantida Songdej, Werasak Sasanakul, Nongnuch Sirachainan

Connect to this object online.

Report of Iranian Family with Pendred Syndrome with New Mutation T420I, and Multiply Heterozygous New Mutation T420I and 1197delT Yazar: Hossein Najm-Abadi, Kimia Kahrizi, Marzieh Mohseni, Fatemeh Sadat Esteghamat, Sanaz Arzhangi, Richard Smith

Connect to this object online.

Tubulovillous adenoma with high-grade dysplasia of the vulva harboring high tumor mutational burden and cancer-associated mutations: a case report Yazar: Hanako Sato, Kosuke Murakami, Tomoyuki Otani, Noriomi Matsumura

Connect to this object online.

Experimental analysis of bladder cancer-associated mutations in EP300 identifies EP300-R1627W as a driver mutation Yazar: Mayao Luo, Yifan Zhang, Zhuofan Xu, Shidong Lv, Qiang Wei, Qiang Dang

Connect to this object online.

Heterozygous versus homozygous phenotype caused by the same MC4R mutation: novel mutation affecting a large consanguineous kindred Yazar: Max Drabkin, Ohad S. Birk, Ruth Birk

Connect to this object online.

Métamorphoses de l'Acte Juridique Yazar: Marc Nicod

Konular: “…mutation…”
DOAB: download the publication
DOAB: description of the publication

Variations juridiques sur le thème du voyage Yazar: Lycette Condé

Konular: “…mutation…”
DOAB: download the publication
DOAB: description of the publication

Mutation Breeding in Coffee with Special Reference to Leaf Rust Protocols /

İçindekiler: “…Introduction coffee breeding and challenges -- Choice of materials for mutation induction in arabica coffee -- Improved in-vitro establishment and germination of Coffea arabica seed -- Induced mutagenesis in coffee (Coffea arabica L.) using chemical agents -- Mutation induction using gamma irradiation and high frequency embryogenic callus from coffee (Coffea arabica) -- Chemical mutagenesis of Coffea arabica mature seed using EMS -- Physical mutagenesis of coffee seeds -- In-vitro regeneration of Coffea arabica var. …”
Link to Metadata

Mutation Breeding in Coffee with Special Reference to Leaf Rust Protocols

Konular: “…Mutation Breeding…”
DOAB: download the publication
DOAB: description of the publication

Famille et mutations sociopolitiques : L'approche culturaliste Yazar: Marie Ladier-Fouladi

DOAB: download the publication
DOAB: description of the publication

Mutation Breeding in Chickpea: Perspectives and Prospects for Food Security Yazar: Kozgar, M. Imran

Konular: “…mutation breeding…”
DOAB: download the publication
DOAB: description of the publication

Sertoli-Leydig cell tumor with DICER1 mutation Yazar: Shae N. Jansen, Samantha L. McCarty, Lisa M. Landrum

Connect to this object online.

Splicing mutations in AMELX and ENAM cause amelogenesis imperfecta Yazar: Zhenwei Zhang, Xiaoying Zou, Lin Feng, Yu Huang, Feng Chen, Kai Sun, Yilin Song, Ping Lv, Xuejun Gao, Yanmei Dong, Hua Tian

Connect to this object online.

Mutational analysis of 16 STR markers in the Slovak population Yazar: Zdenko Červenák, Filip Červenák, Marian Baldovič, Andrea Patlevičová, Soňa Masnicová

Connect to this object online.

The true panel of cystic fibrosis mutations in the Sicilian population Yazar: Sandrine Chamayou, Maria Sicali, Debora Lombardo, Elena Maglia, Annalisa Liprino, Clementina Cardea, Michele Fichera, Ermanno Venti, Antonino Guglielmino

Connect to this object online.

Type II pleuropulmonary blastoma with DICER1 mutation Yazar: Taichi Fukuzawa, Yuki Endo, Masahiro Irie, Hideyuki Sasaki, Hironori Kudo, Megumi Nakamura, Ryo Ando, Ryuji Okubo, Tsuyoshi Sakurai, Masatoshi Hashimoto, Keisuke Tada, Yudai Nakajima, Kosuke Sato, Ryoma Endo, Hidekazu Aoki, Saori Katayama, Tomohiro Nakano, Motoshi Wada

Connect to this object online.

The Spectrum of β -thalassemia Mutations in Isfahan Province of Iran Yazar: P Derakhshandeh-Peykar, H Hourfar, M Heidari, M Kheirollahi, M Miryounesi

Connect to this object online.