Search Results - "Molecular Genetics"

Clinical features and outcomes of epidermolysis bullosa in thai children: A 20-Year review from a Tertiary Care Center by Ekamon Niltem, Nootchanard Rujimethapass, Chonnakarn Sukhneewat, Wanida Limpongsanurak, Srisupalak Singalavanija

Connect to this object online.

High rate of mutations in the BRCA1, BRCA2, CHEK2, NBN, and BLM genes in Russian ovarian cancer patients by Ye. I. Bateneva, M. G. Filippova, A. S. Tyulyandina, A. A. Meshcheryakov, K. I. Zhordania, A. N. Gritsai, V. V. Kadochnikova, D. D. Abramov, A. A. Ragimov, D. Yu. Trofimov, L. N. Lyubchenko

Connect to this object online.

Classic galactosemia: features of diagnosis and treatment by N.O. Pichkur, N.V. Olkhovych, Ya.I. Doronina

Connect to this object online.

Genomics Research on Non-Model Plant Pathogens: Delivering Novel Insights into Rust Fungus Biology by Sebastien Duplessis

DOAB: download the publication
DOAB: description of the publication

Novel de novo missense mutation in the interferon regulatory factor 6 gene in an Italian infant with IRF6-related disorder by Ingrid Anne Mandy Schierz, Salvatore Amoroso, Vincenzo Antona, Mario Giuffrè, Ettore Piro, Gregorio Serra, Giovanni Corsello

Connect to this object online.

Splicing mutations in AMELX and ENAM cause amelogenesis imperfecta by 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.

Aldosterone defects in infants and young children with hyperkalemia: A single center retrospective study by Xu Liu, Yanshu Xie, Jing Tang, Jingzi Zhong, Dan Zeng, Dan Lan

Connect to this object online.

Association of the Genotypes of Single Nucleotide Polymorphism Marker rs81437607 with Capric Acid Contents in longissimus dorsi Muscle in Pigs by Sang-Geum Kim, Hee-Bok Park, Yong-Jun Kang, Hyunsook Shin, Sang-Rae Cho, Wang-Shik Lee, Sang-Hyun Han, In-Cheol Cho

Connect to this object online.

Prenatal diagnosis of a trisomy 7 mosaic case: CMA, CNV-seq, karyotyping, interphase FISH, and MS-MLPA, which technique to choose? by Xiaoyi Cong, Tong Zhang, Zhenming Li, Xiaojin Luo, Liang Hu, Weiqiang Liu

Connect to this object online.

A Case Report of Pregnancy Complicated with Primary Hemophagocytic Lymphohistiocytosis by Chen Y, Huang X, Chen H, Tong J, Huang L, Su J, Deng L

Connect to this object online.

ADDITIVE EFFECT OF GENES POLYMORPHISM OF FOLATE CYCLE PROTEINS AND HOMOCYSTEIN LEVEL IN PATIENTS WITH PROLIFERATIVE DISEASES OF THE BREAST AS A POTENTIAL FACTOR OF THE RISK OF THRO... by Aleksandr V. Markovsky

Connect to this object online.

Prenatal diagnosis of phenylketonuria and bilateral renal agenesis in a fetus by Н. П. Веропотвелян, Г. В. Макух, Л. Б. Чорна, Т. А. Нетребко, Ю. С. Погуляй, Е. О. Хаванская

Connect to this object online.

First report of SYNE1 arthrogryposis multiplex congenita from Saudi Arabia with a novel mutation: a case report by Naglaa M. Kamal, AlaaEddin M. Alzeky, Maher R. Omair, Ruwayd A. Attar, Abdullah M. Alotaibi, Abdullah Safar, Nawal S. Alosaimi, Sara A. S. Abosabie

Connect to this object online.

Phelan-McDermid syndrome presenting with developmental delays and facial dysmorphisms by Yoon-Myung Kim, In-Hee Choi, Jun Suk Kim, Ja Hye Kim, Ja Hyang Cho, Beom Hee Lee, Gu-Hwan Kim, Jin-Ho Choi, Eul-Ju Seo, Han-Wook Yoo

Connect to this object online.

Vitamin D Dependent Rickets Type 1A Caused by Mutation by Na Ry Bak, Eun Song Song, Eun Mi Yang, Chan Jong Kim

Connect to this object online.

Stomatological Problems in Child with the II Type Mucopolysaccharidosis by L. Baborská, V. Merglová

Connect to this object online.

Rapid detection of de novo P253R mutation in FGFR2 using uncultured amniocytes in a pregnancy affected by polyhydramnios, Blake's pouch cyst, and Apert syndrome by Chih-Ping Chen, Yi-Ning Su, Tung-Yao Chang, Schu-Rern Chern, Chen-Yu Chen, Jun-Wei Su, Wayseen Wang

Connect to this object online.

Diagnosis of a rare double heterozygous Hb D Punjab/Hb Q India hemoglobinopathy using Sebia capillary zone electrophoresis by Sushama Parab, Suhas Sakhare, Caesar Sengupta, Arokiaswamy Velumani

Connect to this object online.

The retrospective analysis results of the endometrial tissue pathological conditions development by V. V. Artyomenko, Z. V. Chumak, M. V. Shapoval

Connect to this object online.

The role of association of ADRB2 gene polymorphism with therapeutic response to β2-agonists in children with recurrent bronchial obstruction by I.A. Karimdzhanov, U.I. Zakirova, G.A. Yusupova, U.N. Karimova

Connect to this object online.