Results 191 to 200 of about 15,020 (275)

Mutational spectrum of EDA, EDAR, EDARADD, and WNT10A genes in the largest cohort of Russian patients with hypohidrotic ectodermal dysplasia. [PDF]

Orphanet J Rare Dis
Kovalskaia VA, Cherevatova TB, Zinina EV, Shagina OA, Vorontsova EO, Matyushchenko GN, Demina NA, Petukhova MP, Markova TV, Guseva DM, Galkina VA, Anisimova IV, Stepanova AA, Chuhrova AL, Sharova MV, Bostanova FM, Voskanyan AE, Polyakov AV, Ryzhkova OP.   +18 more
europepmc   +1 more source

Household energy use and health in low-income and middle-income countries. [PDF]

Lancet Glob Health
Pillarisetti A, Daouda M, Gould CF, Gill-Wiehl A, Clasen T, Kammen DM, Amegah AK, Balakrishnan K.   +7 more
europepmc   +1 more source

<i>In silico</i> Analysis of <i>CHD4</i> Mutations Reveals Domain-Specific Impacts on Cardiovascular Disorders Among Patients With Rare Diseases. [PDF]

Hum Mutat
Novillo A, Ysbert M, Brea R, Hidalgo-Estévez AM, El Abdellaoui-Soussi F, Gómez-Del Arco P.   +5 more
europepmc   +1 more source

Identification of novel <i>PROS1</i> variants through systematic analysis of patients with suspected hereditary protein S deficiency. [PDF]

Res Pract Thromb Haemost
Bartylla MM, Achenbach S, Hackstein H, Schneider S.   +3 more
europepmc   +1 more source

Unmasking genetic etiologies in neurodevelopmental disorders characterized by Cerebral Palsy: insights from integrative genomic approaches. [PDF]

Front Neurol
Yigit A, Akgun-Dogan O, Ozkeserli Z, Bayram Akcapınar G, Ayta S, Gencpinar P, Maras Genc H, Kutlubay B, Kara B, Sozen HG, Agaoglu NB, Ozdemir O, Bilguvar K, Ozbek U.   +13 more
europepmc   +1 more source

Molecular diagnosis of inherited platelet disorder via a targeted whole-exome virtual gene panel: a 5-year institutional experience. [PDF]

Res Pract Thromb Haemost
Zhang W, Todd KE, Dawson DB, Luchtman-Jones L, Palumbo JS.   +4 more
europepmc   +1 more source

New insights into neurodevelopmental disorders by whole genome sequencing of 100 families from Italy. [PDF]

NPJ Genom Med
Spirito G, Trova S, Treves G, Farmanli K, Canonico MF, Fant A, Marangoni S, Furia F, Charrance D, Locci N, Gottardo S, Groppo F, Perseghin V, Toscano M, Bibbò E, Dontin SD, Cargnelutti C, Colliard M, Rosina A, Beoni AM, Bérard C, Coppe A, Serravalle P, Landuzzi F, Musacchia F, Amoroso A, Sanges R, Cavalli A, Vecchi M, Obino L, Gustincich S.   +30 more
europepmc   +1 more source

Identification of Novel <i>LOXHD1</i> Variants in Chinese Patients with Non-Syndromic Hearing Loss. [PDF]

J Otol
Zhang K, Xin X, Huang S, Hou B, Xu X, Qu P, Han X, Zhang H.   +7 more
europepmc   +1 more source

Molecular Diagnosis of 46,XY Disorders of Sex Development: An Efficient Initial Molecular Analysis Using a Custom-Designed Targeted Gene Panel in a Single-Center Study. [PDF]

Sex Dev
Poyrazoglu S, Aghayev A, Toksoy G, Karaman B, Aslanger AD, Avci S, Altunoglu U, Karaman V, Yildiz M, Abali ZY, Bas F, Basaran S, Darendeliler F, Uyguner ZO.   +13 more
europepmc   +1 more source

A Novel <i>LMX1A</i> Frameshift Variant Underlies Familial Phenotypic Heterogeneity in DFNA7. [PDF]

Hum Mutat
Xu C, Nie Z, Wang S, Zhu Y, Liu X, Guo Y.   +5 more
europepmc   +1 more source