Volume 75; Issue 2

Main
Clinical Genetics
Volume 75; Issue 2

Clinical Genetics

Volume 75; Issue 2

1

Huntington’s disease-like 2 and apparent ancestry

GGR Rodrigues, HAG Teive, V Tumas

Journal:

Clinical Genetics

Year:

2009

Language:

english

File:

PDF, 54 KB

english, 2009

2

Response to Tumas et al.

J Sequeiros, C Santos, Laura B Jardim

Journal:

Clinical Genetics

Year:

2009

Language:

english

File:

PDF, 51 KB

english, 2009

3

Novel PTEN mutations in neurodevelopmental disorders and macrocephaly

A Orrico, L Galli, S Buoni, A Orsi, G Vonella, V Sorrentino

Journal:

Clinical Genetics

Year:

2009

Language:

english

File:

PDF, 77 KB

english, 2009

4

Autistic features with speech delay in a girl with an ∼1.5-Mb deletion in 6q16.1, including GPR63 and FUT9

K Derwińska, J Bernaciak, B Wiśniowiecka-Kowalnik, E Obersztyn, E Bocian, P Stankiewicz

Journal:

Clinical Genetics

Year:

2009

Language:

english

File:

PDF, 219 KB

english, 2009

5

Spectrum of novel mutations in the human PKLR gene in pyruvate kinase-deficient Indian patients with heterogeneous clinical phenotypes

P Kedar, T Hamada, P Warang, A Nadkarni, K Shimizu, H Fujji, K Ghosh, H Kanno, R Colah

Journal:

Clinical Genetics

Year:

2009

Language:

english

File:

PDF, 198 KB

english, 2009

6

Finding genes underlying human disease

CM Stein, RC Elston

Journal:

Clinical Genetics

Year:

2009

Language:

english

File:

PDF, 95 KB

english, 2009

7

PTPN11 analysis for the prenatal diagnosis of Noonan syndrome in fetuses with abnormal ultrasound findings

KA Lee, B Williams, K Roza, H Ferguson, K David, K Eddleman, J Stone, L Edelmann, G Richard, BD Gelb, R Kornreich

Journal:

Clinical Genetics

Year:

2009

Language:

english

File:

PDF, 91 KB

english, 2009

8

Mitochondrial haplogroup is associated with the phenotype of familial amyloidosis with polyneuropathy in Swedish and French patients

M Olsson, U Hellman, V Planté-Bordeneuve, J Jonasson, K Lång, OB Suhr

Journal:

Clinical Genetics

Year:

2009

Language:

english

File:

PDF, 172 KB

english, 2009

9

Multiple granular cell tumors are an associated feature of LEOPARD syndrome caused by mutation in PTPN11

KA Schrader, TN Nelson, A De Luca, DG Huntsman, BC McGillivray

Journal:

Clinical Genetics

Year:

2009

Language:

english

File:

PDF, 567 KB

english, 2009

10

Biochemical markers associated with executive function in adolescents with early and continuously treated phenylketonuria

R Sharman, K Sullivan, R Young, J McGill

Journal:

Clinical Genetics

Year:

2009

Language:

english

File:

PDF, 92 KB

english, 2009

11

Pseudoexon activation in the PKHD1 gene: a French founder intronic mutation IVS46+653A>G causing severe autosomal recessive polycystic kidney disease

L Michel-Calemard, F Dijoud, M Till, JC Lambert, M Vercherat, V Tardy, C Coubes, Y Morel

Journal:

Clinical Genetics

Year:

2009

Language:

english

File:

PDF, 262 KB

english, 2009

12

Congenital gastrointestinal defects in Down syndrome: a report from the Atlanta and National Down Syndrome Projects

SB Freeman, CP Torfs, PA Romitti, MH Royle, C Druschel, CA Hobbs, SL Sherman

Journal:

Clinical Genetics

Year:

2009

Language:

english

File:

PDF, 84 KB

english, 2009

13

Chromosomal deletion unmasking a recessive disease: 22q13 deletion syndrome and metachromatic leukodystrophy

A-M Bisgaard, M Kirchhoff, JE Nielsen, M Kibæk, A Lund, M Schwartz, E Christensen

Journal:

Clinical Genetics

Year:

2009

Language:

english

File:

PDF, 181 KB

english, 2009

14

Clinical and Molecular diagnosis of the skeletal dysplasias associated with mutations in the gene encoding Fibroblast Growth Factor Receptor 3 (FGFR3) in Portugal

MR Almeida, AB Campos-Xavier, A Medeira, I Cordeiro, AB Sousa, M Lima, G Soares, M Rocha, J Saraiva, L Ramos, S Sousa, JP Marcelino, A Correia, HG Santos

Journal:

Clinical Genetics

Year:

2009

Language:

english

File:

PDF, 207 KB

english, 2009

15

Cumulative lifetime incidence of extracolonic cancers in Lynch syndrome: a report of 121 families with proven mutations

E Barrow, L Robinson, W Alduaij, A Shenton, T Clancy, F Lalloo, J Hill, DG Evans

Journal:

Clinical Genetics

Year:

2009

Language:

english

File:

PDF, 161 KB

english, 2009

16

Genetic analysis of first-trimester miscarriages with a combination of cytogenetic karyotyping, microsatellite genotyping and arrayCGH

Y-X Zhang, Y-P Zhang, Y Gu, F-J Guan, S-L Li, J-S Xie, Y Shen, B-L Wu, W Ju, EC Jenkins, WT Brown, N Zhong

Journal:

Clinical Genetics

Year:

2009

Language:

english

File:

PDF, 343 KB

english, 2009

17

The genetics of brachyolmia: between cilia and cell volume regulation

Journal:

Clinical Genetics

Year:

2009

Language:

english

File:

PDF, 96 KB

english, 2009

18

Digital clubbing: finally, a gene

Journal:

Clinical Genetics

Year:

2009

Language:

english

File:

PDF, 87 KB

english, 2009

19

A short-lived mRNA linked to blindness

Journal:

Clinical Genetics

Year:

2009

Language:

english

File:

PDF, 74 KB

english, 2009

20

Comparison of proactive and usual approaches to offering predictive testing for BRCA1/2 mutations in unaffected relatives

DGR Evans, A Binchy, A Shenton, P Hopwood, D Craufurd

Journal:

Clinical Genetics

Year:

2009

Language:

english

File:

PDF, 232 KB

english, 2009

21

Cystic kidney diseases and planar cell polarity signaling

RL Bacallao, H McNeill

Journal:

Clinical Genetics

Year:

2009

Language:

english

File:

PDF, 551 KB

english, 2009

To build up a library is to create a life. It’s never just a random collection of books.

— Carlos María Domínguez

Official channel

Z-Library Desktop Launcher

Tor version

Z-Library

Z-Library Since 2009 support@z-lib.do

EnglishРусскийEspañolItalianoελληνικάاللغة العربيةBahasa IndonesiaBahasa Malaysiaहिन्दीDeutschFrançaisPortuguêsУкраїнськаPolski中文繁體中文日本語Tiếng ViệtAzərbaycan DiliՀայոց լեզուภาษาไทยTürk Diliქართველიবাংলাپښتوతెలుగుاردو한국어SrpskiБългарски