Volume 60; Issue 2

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Clinical Genetics
Volume 60; Issue 2

Clinical Genetics

Volume 60; Issue 2

1

Consanguinity and its relevance to clinical genetics

Journal:

Clinical Genetics

Year:

2001

Language:

english

File:

PDF, 1.35 MB

english, 2001

2

HotSpots

Rebecca S Devon, Vikramjit Chopra, Jeremy M Van Raamsdonk

Journal:

Clinical Genetics

Year:

2001

Language:

english

File:

PDF, 528 KB

english, 2001

3

HotSpots

Rebecca S Devon, Vikramjit Chopra, Jeremy M Van Raamsdonk

Journal:

Clinical Genetics

Year:

2001

Language:

english

File:

PDF, 127 KB

english, 2001

4

HotSpots

Rebecca S Devon, Vikramjit Chopra, Jeremy M Van Raamsdonk

Journal:

Clinical Genetics

Year:

2001

Language:

english

File:

PDF, 82 KB

english, 2001

5

History of genetics through philately – Carl Linnaeus (Carl von Linné)

Albert E Chudley

Journal:

Clinical Genetics

Year:

2001

Language:

english

File:

PDF, 16.15 MB

english, 2001

6

The additive effect of neurotransmitter genes in pathological gambling

DE Comings, R Gade-Andavolu, N Gonzalez, S Wu, D Muhleman, C Chen, P Koh, K Farwell, H Blake, G Dietz, JP MacMurray, HR Lesieur, LJ Rugle, RJ Rosenthal

Journal:

Clinical Genetics

Year:

2001

Language:

english

File:

PDF, 304 KB

english, 2001

7

Determination of a positive malignant hyperthermia (MH) disposition without the in vitro contracture test in families carrying the RYR1 Arg614Cys mutation

H Rueffert, D Olthoff, C Deutrich, UG Froster

Journal:

Clinical Genetics

Year:

2001

Language:

english

File:

PDF, 232 KB

english, 2001

8

Phenotype variability of two FAP families with an identical APC germline mutation at codon 1465: a potential modifier effect?

T Martin-Denavit, S Duthel, S Giraud, S Olschwang, JC Saurin, H Plauchu

Journal:

Clinical Genetics

Year:

2001

Language:

english

File:

PDF, 1.78 MB

english, 2001

9

Apolipoprotein E polymorphism and lipid levels differ by gender and family history of diabetes: the Rancho Bernardo Study

J-Y Oh, E Barrett-Connor

Journal:

Clinical Genetics

Year:

2001

Language:

english

File:

PDF, 72 KB

english, 2001

10

Genetic heterogeneity in Korean families with autosomal-dominant polycystic kidney disease (ADPKD): the first Asian report

Jung Geon Lee, Kyu Beck Lee, Un Kyung Kim, Curie Ahn, Dae Yeon Hwang, Young Hwan Hwang, Hyun-Seon Eo, Eun Joo Lee, Yon Su Kim, Jin Suk Han, Suhnggwon Kim, Jung Sang Lee

Journal:

Clinical Genetics

Year:

2001

Language:

english

File:

PDF, 78 KB

english, 2001

11

Quantification of all fetal nucleated cells in maternal blood between the 18th and 22nd weeks of pregnancy using molecular cytogenetic techniques

K Krabchi, F Gros-Louis, J Yan, M Bronsard, J Massé, J-C Forest, R Drouin

Journal:

Clinical Genetics

Year:

2001

Language:

english

File:

PDF, 8.99 MB

english, 2001

12

PAX6 mutation in a family with aniridia, congenital ptosis, and mental retardation

A Malandrini, F Mari, S Palmeri, S Gambelli, G Berti, M Bruttini, AM Bardelli, K Williamson, V Van Heyningen, A Renieri

Journal:

Clinical Genetics

Year:

2001

Language:

english

File:

PDF, 694 KB

english, 2001

13

Further evidence for linkage of low–mid frequency hearing impairment to the candidate region on chromosome 4p16.3

S Brodwolf, IR Böddeker, A Ziegler, P Rausch, J Kunz

Journal:

Clinical Genetics

Year:

2001

Language:

english

File:

PDF, 187 KB

english, 2001

14

Molecular genetic analysis of the cystathionine β-synthase gene in Portuguese homocystinuria patients: three novel mutations

R Castro, SG Heil, I Rivera, C Jakobs, IT De Almeida, HJ Blom

Journal:

Clinical Genetics

Year:

2001

Language:

english

File:

PDF, 2.28 MB

english, 2001

15

HotSpots

Devon, Rebecca S, Chopra, Vikramjit, van Raamsdonk, Jeremy M

Journal:

Clinical Genetics

Year:

2001

Language:

english

File:

PDF, 531 KB

english, 2001

16

HotSpots

Devon, Rebecca S, Chopra, Vikramjit, van Raamsdonk, Jeremy M

Journal:

Clinical Genetics

Year:

2001

Language:

english

File:

PDF, 129 KB

english, 2001

17

HotSpots

Devon, Rebecca S, Chopra, Vikramjit, van Raamsdonk, Jeremy M

Journal:

Clinical Genetics

Year:

2001

Language:

english

File:

PDF, 85 KB

english, 2001