Volume 89; Issue 1

Main
Clinical Genetics
Volume 89; Issue 1

Clinical Genetics

Volume 89; Issue 1

1

X-chromosome inactivation in female patients with Fabry disease

Echevarria, L., Benistan, K., Toussaint, A., Dubourg, O., Hagege, A.A., Eladari, D., Jabbour, F., Beldjord, C., De Mazancourt, P., Germain, D.P.

Journal:

Clinical Genetics

Year:

2016

Language:

english

File:

PDF, 552 KB

english, 2016

2

Mutation spectrum of the MTM1 gene in XLMTM patients: 10 years of experience in prenatal and postnatal diagnosis

Longo, G., Russo, S., Novelli, G., Sangiuolo, F., D'Apice, M.R.

Journal:

Clinical Genetics

Year:

2016

Language:

english

File:

PDF, 620 KB

english, 2016

3

New insights into Brunner syndrome and potential for targeted therapy

Palmer, E.E., Leffler, M., Rogers, C., Shaw, M., Carroll, R., Earl, J., Cheung, N.W., Champion, B., Hu, H., Haas, S.A., Kalscheuer, V.M., Gecz, J., Field, M.

Journal:

Clinical Genetics

Year:

2016

Language:

english

File:

PDF, 1.15 MB

english, 2016

4

High-resolution microarray analysis unravels complex Xq28 aberrations in patients and carriers affected by X-linked blue cone monochromacy

Yatsenko, S.A., Bakos, H.A., Vitullo, K., Kedrov, M., Kishore, A., Jennings, B.J., Surti, U., Wood-Trageser, M.A., Cercone, S., Yatsenko, A.N., Rajkovic, A., Iannaccone, A.

Journal:

Clinical Genetics

Year:

2016

Language:

english

File:

PDF, 948 KB

english, 2016

5

X-chromosomal inactivation directly influences the phenotypic manifestation of X-linked protoporphyria

Brancaleoni, V., Balwani, M., Granata, F., Graziadei, G., Missineo, P., Fiorentino, V., Fustinoni, S., Cappellini, M.D., Naik, H., Desnick, R.J., Di Pierro, E.

Journal:

Clinical Genetics

Year:

2016

Language:

english

File:

PDF, 558 KB

english, 2016

6

Mutations in FLVCR2 associated with Fowler syndrome and survival beyond infancy

Kvarnung, M., Taylan, F., Nilsson, D., Albåge, M., Nordenskjöld, M., Anderlid, B.M., Nordgren, A., Syk Lundberg, E.

Journal:

Clinical Genetics

Year:

2016

Language:

english

File:

PDF, 557 KB

english, 2016

7

Xq25 duplication: the crucial role of the STAG2 gene in this novel human cohesinopathy

Leroy, C., Jacquemont, M.-L., Doray, B., Lamblin, D., Cormier-Daire, V., Philippe, A., Nusbaum, S., Patrat, C., Steffann, J., Colleaux, L., Vekemans, M., Romana, S., Turleau, C., Malan, V.

Journal:

Clinical Genetics

Year:

2016

Language:

english

File:

PDF, 675 KB

english, 2016

8

Phenotype analysis impacts testing strategy in patients with Currarino syndrome

Cuturilo, G., Hodge, J.C., Runke, C.K., Thorland, E.C., Al-Owain, M.A., Ellison, J.W., Babovic-Vuksanovic, D.

Journal:

Clinical Genetics

Year:

2016

Language:

english

File:

PDF, 308 KB

english, 2016

9

Fabry disease and enzyme replacement therapy in classic patients with same mutation: different formulations - different outcome?

Politei, J., Schenone, A.B., Cabrera, G., Heguilen, R., Szlago, M.

Journal:

Clinical Genetics

Year:

2016

Language:

english

File:

PDF, 264 KB

english, 2016

10

Low penetrance of paraganglioma and pheochromocytoma in an extended kindred with a germline SDHB exon 3 deletion

Rijken, J.A., Niemeijer, N.D., Corssmit, E.P.M., Jonker, M.A., Leemans, C.R., Menko, F.H., Hensen, E.F.

Journal:

Clinical Genetics

Year:

2016

Language:

english

File:

PDF, 200 KB

english, 2016

11

Evaluating stakeholder's perspective on referred out genetic testing in Canada: a discrete choice experiment

Blumenschein, P., Lilley, M., Bakal, J.A., Christian, S.

Journal:

Clinical Genetics

Year:

2016

Language:

english

File:

PDF, 368 KB

english, 2016

12

Fragile-X syndrome - a 20-year follow-up study of male patients

Journal:

Clinical Genetics

Year:

2016

Language:

english

File:

PDF, 615 KB

english, 2016

13

Neurological and endocrine phenotypes of fragile X carrier women

Hall, D., Todorova-Koteva, K., Pandya, S., Bernard, B., Ouyang, B., Walsh, M., Pounardjian, T., Deburghraeve, C., Zhou, L., Losh, M., Leehey, M., Berry-Kravis, E.

Journal:

Clinical Genetics

Year:

2016

Language:

english

File:

PDF, 148 KB

english, 2016

14

Issue Information - Editorial Board

Journal:

Clinical Genetics

Year:

2016

Language:

english

File:

PDF, 409 KB

english, 2016

15

Gastrointestinal involvement in Fabry disease. So important, yet often neglected

Politei, J., Thurberg, B.L., Wallace, E., Warnock, D., Serebrinsky, G., Durand, C., Schenone, A.B.

Journal:

Clinical Genetics

Year:

2016

Language:

english

File:

PDF, 304 KB

english, 2016

16

Clinical Genetics in the age of Genomics and Genome editing

Journal:

Clinical Genetics

Year:

2016

Language:

english

File:

PDF, 88 KB

english, 2016

17

Clinical and genetic data on Lafora disease patients of Serbian/Montenegrin origin

Kecmanović, M., Jović, N., Keckarević-Marković, M., Keckarević, D., Stevanović, G., Ignjatović, P., Romac, S.

Journal:

Clinical Genetics

Year:

2016

Language:

english

File:

PDF, 244 KB

english, 2016

18

10.1111/cge.2016.89.issue-1

Journal:

Clinical Genetics

File:

PDF, 409 KB

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