Volume 89; Issue 2

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Clinical Genetics
Volume 89; Issue 2

Clinical Genetics

Volume 89; Issue 2

1

Obtaining a genetic diagnosis in a child with disability: impact on parental quality of life

Lingen, M., Albers, L., Borchers, M., Haass, S., Gärtner, J., Schröder, S., Goldbeck, L., von Kries, R., Brockmann, K., Zirn, B.

Journal:

Clinical Genetics

Year:

2016

Language:

english

File:

PDF, 325 KB

english, 2016

2

Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome

Dimassi, S., Labalme, A., Ville, D., Calender, A., Mignot, C., Boutry-Kryza, N., de Bellescize, J., Rivier-Ringenbach, C., Bourel-Ponchel, E., Cheillan, D., Simonet, T., Maincent, K., Rossi, M., Till,

Journal:

Clinical Genetics

Year:

2016

Language:

english

File:

PDF, 666 KB

english, 2016

3

Sixteenth-century German woodcut of a male infant with possible disorganization

Heyne, T.F., Robin, N.H., Lin, A.E.

Journal:

Clinical Genetics

Year:

2016

Language:

english

File:

PDF, 725 KB

english, 2016

4

Consideration surrounding incidental findings throughout multigene panel testing in cancer genetics

Grandval, P., Fabre, A.J., Béroud, C., Olschwang, S.

Journal:

Clinical Genetics

Year:

2016

Language:

english

File:

PDF, 755 KB

english, 2016

5

Diagnostic pitfall in antenatal manifestations of CPT II deficiency

Boemer, F., Deberg, M., Schoos, R., Caberg, J.-H., Gaillez, S., Dugauquier, C., Delbecque, K., François, A., Maton, P., Demonceau, N., Senterre, G., Ferdinandusse, S., Debray, F.-G.

Journal:

Clinical Genetics

Year:

2016

Language:

english

File:

PDF, 486 KB

english, 2016

6

Sclerosteosis caused by a novel nonsense mutation of SOST in a consanguineous family

He, Wen-Tao, Chen, Chen, Pan, Chu, Zhang, Mu-Xun, Yu, Xue-Feng, Wang, Dao-Wen, Hu, Shu-Hong

Journal:

Clinical Genetics

Year:

2016

Language:

english

File:

PDF, 379 KB

english, 2016

7

Are physicians prepared for whole genome sequencing? a qualitative analysis

Christensen, K.D., Vassy, J.L., Jamal, L., Lehmann, L.S., Slashinski, M.J., Perry, D.L., Robinson, J.O., Blumenthal-Barby, J., Feuerman, L.Z., Murray, M.F., Green, R.C., McGuire, A.L.

Journal:

Clinical Genetics

Year:

2016

Language:

english

File:

PDF, 142 KB

english, 2016

8

Prevalence of type 5 familial hemophagocytic lymphohistiocytosis in Korea and novel mutations in STXBP2

Seo, J.Y., Lee, K.-O., Yoo, K.-H., Sung, K.-W., Koo, H.H., Kim, S.-H., Kang, H.J., Park, K.-D., Shin, H.Y., Baek, H.-J., Kook, H., Lyu, C.J., Song, J.-S., Lee, M.J., Kim, J.-Y., Lim, Y.-T., Koh, K.-N.

Journal:

Clinical Genetics

Year:

2016

Language:

english

File:

PDF, 361 KB

english, 2016

9

Molecular basis of inherited thrombocytopenias

Journal:

Clinical Genetics

Year:

2016

Language:

english

File:

PDF, 214 KB

english, 2016

10

Measuring genetic knowledge: a brief survey instrument for adolescents and adults

Fitzgerald-Butt, S. M., Bodine, A., Fry, K. M., Ash, J., Zaidi, A. N., Garg, V., Gerhardt, C. A., McBride, K. L.

Journal:

Clinical Genetics

Year:

2016

Language:

english

File:

PDF, 278 KB

english, 2016

11

Functional characterization of two new STAT3 mutations associated with hyper-IgE syndrome in a Mexican cohort

Alcántara-Montiel, J.C., Staines-Boone, T., López-Herrera, G., Espinosa-Rosales, F., Espinosa-Padilla, S.E., Hernández-Rivas, R., Santos-Argumedo, L.

Journal:

Clinical Genetics

Year:

2016

Language:

english

File:

PDF, 335 KB

english, 2016

12

Non-truncating LIFR mutation: causal for prominent congenital pain insensitivity phenotype with progressive vertebral destruction?

Elsaid, M.F., Chalhoub, N., Kamel, H., Ehlayel, M., Ibrahim, N., Elsaid, A., Kumar, P., Khalak, H., Ilyin, V.A., Suhre, K., Abdel Aleem, A.

Journal:

Clinical Genetics

Year:

2016

Language:

english

File:

PDF, 1.16 MB

english, 2016

13

NAPB - a novel SNARE-associated protein for early-onset epileptic encephalopathy

Conroy, J., Allen, N.M., Gorman, K. M., Shahwan, A., Ennis, S., Lynch, S.A., King, M.D.

Journal:

Clinical Genetics

Year:

2016

Language:

english

File:

PDF, 96 KB

english, 2016

14

Glanzmann thrombasthenia in Pakistan: molecular analysis and identification of novel mutations

Haghighi, A., Borhany, M., Ghazi, A., Edwards, N., Tabaksert, A., Haghighi, A., Fatima, N., Shamsi, T.S., Sayer, J.A.

Journal:

Clinical Genetics

Year:

2016

Language:

english

File:

PDF, 365 KB

english, 2016

15

Issue Information - Editorial Board

Journal:

Clinical Genetics

Year:

2016

Language:

english

File:

PDF, 417 KB

english, 2016

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