Works matching IS 00099163 AND DT 2009 AND VI 75 AND IP 1

Results: 17

USH1H, a novel locus for type I Usher syndrome, maps to chromosome 15q22-23.

Published in:

Clinical Genetics, 2009, v. 75, n. 1, p. 86, doi. 10.1111/j.1399-0004.2008.01038.x

By:

Ahmed, Z. M.;
Riazuddin, S.;
Khan, S. N.;
Friedman, P. L.;
Friedman, T. B.

Publication type:

Article

Predictive testing for Huntington disease in a developing country.

Published in:

Clinical Genetics, 2009, v. 75, n. 1, p. 92, doi. 10.1111/j.1399-0004.2008.01044.x

By:

Futter, M. J.;
Heckmann, J. M.;
Greenberg, L. J.

Publication type:

Article

Depression during pregnancy: the potential impact of increased risk for fetal aneuploidy on maternal mood.

Published in:

Clinical Genetics, 2009, v. 75, n. 1, p. 30, doi. 10.1111/j.1399-0004.2008.01056.x

By:

Hippman, C.;
Oberlander, T. F.;
Honer, W. G.;
Misri, S.;
Austin, J. C.

Publication type:

Article

Takahashi’s response to Ravn’s correspondence.

Published in:

2009

By:

Takahashi, Satoru

Publication type:

Letter

The impact of familial environment on depression scores after genetic testing for cancer susceptibility.

Published in:

Clinical Genetics, 2009, v. 75, n. 1, p. 43, doi. 10.1111/j.1399-0004.2008.01104.x

By:

Ashida, S.;
Hadley, D. W.;
Vaughn, B. K.;
Kuhn, N. R.;
Jenkins, J. F.;
Koehly, L. M.

Publication type:

Article

The rate of germline mutations and large deletions of SMAD4 and BMPR1A in juvenile polyposis.

Published in:

Clinical Genetics, 2009, v. 75, n. 1, p. 79, doi. 10.1111/j.1399-0004.2008.01091.x

By:

Calva-Cerqueira, D.;
Chinnathambi, S.;
Pechman, B.;
Bair, J.;
Larsen-Haidle, J.;
Howe, J. R.

Publication type:

Article

Inheritance of ankyloglossia (tongue-tie).

Published in:

2009

By:

Klockars, T.;
Pitkäranta, A.

Publication type:

Letter

Squalene synthase: a critical enzyme in the cholesterol biosynthesis pathway.

Published in:

Clinical Genetics, 2009, v. 75, n. 1, p. 19, doi. 10.1111/j.1399-0004.2008.01099.x

By:

Do, R.;
Kiss, R. S.;
Gaudet, D.;
Engert, J. C.

Publication type:

Article

A diagnostic tattoo.

Published in:

Clinical Genetics, 2009, v. 75, n. 1, p. 37, doi. 10.1111/j.1399-0004.2008.01103.x

By:

Whittaker, R. G.;
Turnbull, D. M.

Publication type:

Article

The genetics of antiplatelet drug resistance.

Published in:

Clinical Genetics, 2009, v. 75, n. 1, p. 1, doi. 10.1111/j.1399-0004.2008.01105.x

By:

Feher, G.;
Feher, A.;
Pusch, G.;
Lupkovics, G.;
Szapary, L.;
Papp, E.

Publication type:

Article

CHD7 mutations in patients initially diagnosed with Kallmann syndrome – the clinical overlap with CHARGE syndrome.

Published in:

Clinical Genetics, 2009, v. 75, n. 1, p. 65, doi. 10.1111/j.1399-0004.2008.01107.x

By:

Jongmans, M. C. J.;
van Ravenswaaij-Arts, C. M. A.;
Pitteloud, N.;
Ogata, T.;
Sato, N.;
Claahsen-van der Grinten, H. L.;
van der Donk, K.;
Seminara, S.;
Bergman, J. E. H.;
Brunner, H. G.;
Crowley Jr., W. F.;
Hoefsloot, L. H.

Publication type:

Article

Molecular and clinical consequences of novel mutations in the arylsulfatase A gene.

Published in:

Clinical Genetics, 2009, v. 75, n. 1, p. 57, doi. 10.1111/j.1399-0004.2008.01108.x

By:

Ługowska, A.;
Wlodarski, P.;
Płoski, R.;
Mierzewska, H.;
Dudzińska, M.;
Matheisel, A.;
Świętochowska, H.;
Tylki-Szymańska, A.

Publication type:

Article

Radiotherapy for childhood cancer and risk for congenital malformations in offspring: a population-based cohort study.

Published in:

Clinical Genetics, 2009, v. 75, n. 1, p. 50, doi. 10.1111/j.1399-0004.2008.01109.x

By:

Winther, J. F.;
Boice, J. D.;
Frederiksen, K.;
Bautz, A.;
Mulvihill, J. J.;
Stovall, M.;
Olsen, J. H.

Publication type:

Article

Estrogen receptor status in CHEK2-positive breast cancers: implications for chemoprevention.

Published in:

Clinical Genetics, 2009, v. 75, n. 1, p. 72, doi. 10.1111/j.1399-0004.2008.01111.x

By:

Cybulski, C.;
Huzarski, T.;
Byrski, T.;
Gronwald, J.;
Dębniak, T.;
Jakubowska, A.;
Górski, B.;
Wokołorczyk, D.;
Masoj, B.;
Narod, S. A.;
Lubiński, J.

Publication type:

Article

ALAS, our frailty is the cause ... of a new for form of protoporphyria.

Published in:

Clinical Genetics, 2009, v. 75, n. 1, p. 39, doi. 10.1111/j.1399-0004.2008.01139_1.x

By:

Brunham, L. R.

Publication type:

Article

Cilia get serious: Meckel–Gruber and Bardet–Biedl syndromes represent a spectrum of allelic disorders.

Published in:

Clinical Genetics, 2009, v. 75, n. 1, p. 40, doi. 10.1111/j.1399-0004.2008.01139_2.x

By:

Brunham, L. R.

Publication type:

Article

LeaPIN’ toward the cause of myoglobinuria in childhood.

Published in:

Clinical Genetics, 2009, v. 75, n. 1, p. 41, doi. 10.1111/j.1399-0004.2008.01139_3.x

By:

Brunham, L. R.

Publication type:

Article