Volume 81; Issue 5

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Clinical Genetics
Volume 81; Issue 5

Clinical Genetics

Volume 81; Issue 5

1

Functional characterization of the TSC2 c.3598C>T (p.R1200W) missense mutation that co-segregates with tuberous sclerosis complex in mildly affected kindreds

M Wentink, M Nellist, M Hoogeveen-Westerveld, B Zonnenberg, D van der Kolk, T van Essen, S-M Park, G Woods, P Cohn-Hokke, W Brussel, E Smeets, A Brooks, D Halley, A van den Ouweland, A Maat-Kievit

Journal:

Clinical Genetics

Year:

2012

Language:

english

File:

PDF, 774 KB

english, 2012

2

Three novel truncating TINF2 mutations causing severe dyskeratosis congenita in early childhood

GS Sasa, A Ribes-Zamora, ND Nelson, AA Bertuch

Journal:

Clinical Genetics

Year:

2012

Language:

english

File:

PDF, 879 KB

english, 2012

3

Novel mutation in GLRB in a large family with hereditary hyperekplexia

M Al-Owain, D Colak, A Al-Bakheet, N Al-Hashmi, T Shuaib, A Al-Hemidan, H Aldhalaan, Z Rahbeeni, M Al-Sayed, B Al-Younes, PT Ozand, N Kaya

Journal:

Clinical Genetics

Year:

2012

Language:

english

File:

PDF, 791 KB

english, 2012

4

Spanish MYH7 founder mutation of Italian ancestry causing a large cluster of Laing myopathy patients

N Muelas, P Hackman, H Luque, T Suominen, C Espinós, M Garcés-Sánchez, T Sevilla, I Azorín, JM Millán, B Udd, JJ Vílchez

Journal:

Clinical Genetics

Year:

2012

Language:

english

File:

PDF, 557 KB

english, 2012

5

Severe α-1 antitrypsin deficiency caused by Q0Ourém allele: clinical features, haplotype characterization and history

L Vaz Rodrigues, F Costa, P Marques, C Mendonça, J Rocha, S Seixas

Journal:

Clinical Genetics

Year:

2012

Language:

english

File:

PDF, 694 KB

english, 2012

6

Fabry disease in children and response to enzyme replacement therapy: results from the Fabry Outcome Survey

U Ramaswami, R Parini, G Pintos-Morell, G Kalkum, C Kampmann, M Beck, on behalf of the FOS Investigators

Journal:

Clinical Genetics

Year:

2012

Language:

english

File:

PDF, 568 KB

english, 2012

7

Mucopolysaccharidosis I mutations in Chinese patients: identification of 27 novel mutations and 6 cases involving prenatal diagnosis

X Wang, W Zhang, H Shi, Z Qiu, Y Meng, F Yao, M Wei

Journal:

Clinical Genetics

Year:

2012

Language:

english

File:

PDF, 805 KB

english, 2012

8

The new Ghent criteria for Marfan syndrome: what do they change?

L Faivre, G Collod-Beroud, L Adès, E Arbustini, A Child, BL Callewaert, B Loeys, C Binquet, E Gautier, K Mayer, M Arslan-Kirchner, M Grasso, C Beroud, D Hamroun, C Bonithon-Kopp, H Plauchu, PN Robinso

Journal:

Clinical Genetics

Year:

2012

Language:

english

File:

PDF, 713 KB

english, 2012

9

DFNB86, a novel autosomal recessive non-syndromic deafness locus on chromosome 16p13.3

RA Ali, AU Rehman, SN Khan, T Husnain, S Riazuddin, TB Friedman, ZM Ahmed, S Riazuddin

Journal:

Clinical Genetics

Year:

2012

Language:

english

File:

PDF, 633 KB

english, 2012

10

Gaucher disease: a pyrosequencing frequency analysis of the N370S and L444P mutations in the Spanish population

B García-Rodríguez, P Alfonso, M Mallén, M Pocoví, P Giraldo

Journal:

Clinical Genetics

Year:

2012

Language:

english

File:

PDF, 484 KB

english, 2012

11

The introduction of a choice to learn pre-symptomatic DNA test results for BRCA or Lynch syndrome either face-to-face or by letter

JS Voorwinden, JPC Jaspers, JG ter Beest, Y Kievit, RH Sijmons, JC Oosterwijk

Journal:

Clinical Genetics

Year:

2012

Language:

english

File:

PDF, 596 KB

english, 2012

12

Towards an evidence-based process for the clinical interpretation of copy number variation

ER Riggs, DM Church, K Hanson, VL Horner, EB Kaminsky, RM Kuhn, KE Wain, ES Williams, S Aradhya, HM Kearney, DH Ledbetter, ST South, EC Thorland, CL Martin

Journal:

Clinical Genetics

Year:

2012

Language:

english

File:

PDF, 666 KB

english, 2012

13

Mutations in the Mediator subunit MED23 link intellectual disability to immediate early gene regulation

YS Goh, JM Grants

Journal:

Clinical Genetics

Year:

2012

Language:

english

File:

PDF, 469 KB

english, 2012

14

Aicardi–Goutieres syndrome: from patients to genes and beyond

C Chahwan, R Chahwan

Journal:

Clinical Genetics

Year:

2012

Language:

english

File:

PDF, 613 KB

english, 2012

15

A novel approach to the management and use of personal genome variants in clinical practice

Journal:

Clinical Genetics

Year:

2012

Language:

english

File:

PDF, 508 KB

english, 2012

16

A common tool for rare diseases

Journal:

Clinical Genetics

Year:

2012

Language:

english

File:

PDF, 457 KB

english, 2012

17

Corrigendum

Journal:

Clinical Genetics

Year:

2012

File:

PDF, 457 KB

2012

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