Works matching IS 1178704X AND DT 2016 AND VI 9

Results: 23

Identification of a novel pathogenic OTOF variant causative of nonsyndromic hearing loss with high frequency in the Ashkenazi Jewish population.

Published in:

Application of Clinical Genetics, 2016, v. 9, p. 141, doi. 10.2147/TACG.S113828

By:

Fedick, Anastasia M.;
Jalas, Chaim;
Swaroop, Ananya;
Smouha, Eric E.;
Webb, Bryn D.

Publication type:

Article

Examining genotypic variation in autism spectrum disorder and its relationship to parental age and phenotype.

Published in:

Application of Clinical Genetics, 2016, v. 9, p. 121, doi. 10.2147/TACG.S112712

By:

Geier, David A.;
Kern, Janet K.;
Sykes, Lisa K.;
Geier, Mark R.

Publication type:

Article

Animal models of GM2 gangliosidosis: utility and limitations.

Published in:

Application of Clinical Genetics, 2016, v. 9, p. 111, doi. 10.2147/TACG.S85354

By:

Lawson, Cheryl A.;
Martin, Douglas R.

Publication type:

Article

Advances in the management of erythropoietic protoporphyria - role of afamelanotide.

Published in:

Application of Clinical Genetics, 2016, v. 9, p. 179, doi. 10.2147/tacg.s122030

By:

Lane, Ashley M.;
McKay, Jerome T.;
Bonkovsky, Herbert L.

Publication type:

Article

Analysis of binary responses with outcome-specific misclassification probability in genome-wide association studies.

Published in:

Application of Clinical Genetics, 2016, v. 9, p. 169, doi. 10.2147/TACG.S122250

By:

Rekaya, Romdhane;
Smith, Shannon;
Hay, El Hamidi;
Farhat, Nourhene;
Aggrey, Samuel E.

Publication type:

Article

The association between vitamin D receptor gene polymorphisms (TaqI and FokI), Type 2 diabetes, and micro-/macrovascular complications in postmenopausal women.

Published in:

Application of Clinical Genetics, 2016, v. 9, p. 131, doi. 10.2147/TACG.S101410

By:

Maia, Juliana;
da Silva, Andreia Soares;
do Carmo, Rodrigo Feliciano;
de Mendonça, Taciana Furtado;
Maciel Griz, Luiz Henrique;
Moura, Patricia;
Bandeira, Francisco

Publication type:

Article

Novel treatment options for lysosomal acid lipase deficiency: critical appraisal of sebelipase alfa.

Published in:

Application of Clinical Genetics, 2016, v. 9, p. 157, doi. 10.2147/TACG.S86760

By:

Su, Kim;
Donaldson, Emma;
Sharma, Reena

Publication type:

Article

The genetics of uveal melanoma: current insights.

Published in:

Application of Clinical Genetics, 2016, v. 9, p. 147

By:

Helgadottir, Hildur;
Höiom, Veronica

Publication type:

Article

Authors' response.

Published in:

2016

By:

Pandey, Priyanka;
Singh, Yogendra;
Mohammad, Ghulam;
Qadar Pasha, M. A.

Publication type:

Letter to the Editor

ROCK2 and MYLK variants and high-altitude pulmonary edema.

Published in:

2016

By:

Sikri, Gaurav;
Bhattachar, Srinivasa

Publication type:

Letter to the Editor

Mevalonate kinase deficiency: current perspectives.

Published in:

Application of Clinical Genetics, 2016, v. 9, p. 101, doi. 10.2147/TACG.S93933

By:

Favier, Leslie A.;
Schulert, Grant S.

Publication type:

Article

Genetics of Lafora progressive myoclonic epilepsy: current perspectives.

Published in:

Application of Clinical Genetics, 2016, v. 9, p. 49, doi. 10.2147/TACG.S57890

By:

Kecmanović, Miljana;
Keckarević-Marković, Milica;
Keckarević, Dušan;
Stevanović, Galina;
Jović, Nebojša;
Romac, Stanka

Publication type:

Article

Utilization of genetic testing among children with developmental disabilities in the United States.

Published in:

Application of Clinical Genetics, 2016, v. 9, p. 93, doi. 10.2147/TACG.S103975

By:

Kiely, Bridget;
Vettam, Sujit;
Adesman, Andrew

Publication type:

Article

Natural killer cells and single nucleotide polymorphisms of specific ion channels and receptor genes in myalgic encephalomyelitis/ chronic fatigue syndrome.

Published in:

Application of Clinical Genetics, 2016, v. 9, p. 39, doi. 10.2147/TACG.S99405

By:

Marshall-Gradisnik, Sonya;
Huth, Teilah;
Chacko, Anu;
Johnston, Samantha;
Smith, Pete;
Staines, Donald

Publication type:

Article

Marfan syndrome: current perspectives.

Published in:

Application of Clinical Genetics, 2016, v. 9, p. 55, doi. 10.2147/TACG.S96233

By:

Pepe, Guglielmina;
Giusti, Betti;
Sticchi, Elena;
Abbate, Rosanna;
Gensini, Gian Franco;
Nistri, Stefano

Publication type:

Article

Genetic basis of Cowden syndrome and its implications for clinical practice and risk management.

Published in:

Application of Clinical Genetics, 2016, v. 9, p. 83, doi. 10.2147/TACG.S41947

By:

Gammon, Amanda;
Jasperson, Kory;
Champine, Marjan

Publication type:

Article

Role of elosulfase alfa in mucopolysaccharidosis IVA.

Published in:

Application of Clinical Genetics, 2016, v. 9, p. 67, doi. 10.2147/TACG.S69080

By:

Regier, Debra S.;
Tanpaiboon, Pranoot

Publication type:

Article

Alagille syndrome: clinical perspectives.

Published in:

Application of Clinical Genetics, 2016, v. 9, p. 75, doi. 10.2147/TACG.S86420

By:

Saleh, Maha;
Kamath, Binita M.;
Chitayat, David

Publication type:

Article

Analysis of the CFTR gene in Venezuelan cystic fibrosis patients, identification of six novel cystic fibrosis-causing genetic variants.

Published in:

Application of Clinical Genetics, 2016, v. 9, p. 33, doi. 10.2147/TACG.S78241

By:

Sánchez, Karen;
de Mendonca, Elizabeth;
Matute, Xiorama;
Chaustre, Ismenia;
Villalón, Marlene;
Takiff, Howard

Publication type:

Article

Non-invasive prenatal testing for fetal chromosome abnormalities: review of clinical and ethical issues.

Published in:

Application of Clinical Genetics, 2016, v. 9, p. 15, doi. 10.2147/TACG.S85361

By:

Gekas, Jean;
Langlois, Sylvie;
Ravitsky, Vardit;
Audibert, François;
van den Berg, David Gradus;
Haidar, Hazar;
Rousseau, François

Publication type:

Article

Emery-Dreifuss muscular dystrophy: a test case for precision medicine.

Published in:

Application of Clinical Genetics, 2016, v. 9, p. 27, doi. 10.2147/TACG.S75028

By:

Pillers, De-Ann M.;
Von Bergen, Nicholas H.

Publication type:

Article

Candidate genes of idiopathic pulmonary fibrosis: current evidence and research.

Published in:

Application of Clinical Genetics, 2016, v. 9, p. 5, doi. 10.2147/TACG.S61999

By:

Wei Zhou;
Yaping Wang

Publication type:

Article

Case report of individual with cutaneous immunodeficiency and novel 1p36 duplication.

Published in:

Application of Clinical Genetics, 2016, v. 9, p. 1, doi. 10.2147/TACG.S90713

By:

Hatter, Alyn D.;
Soler, David C.;
Curtis, Christine;
Cooper, Kevin D.;
McCormick, Thomas S.

Publication type:

Article