Volume 55; Issue 4

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Clinical Genetics
Volume 55; Issue 4

Clinical Genetics

Volume 55; Issue 4

1

Biology of presenilins as causative molecules for Alzheimer disease

Masaki Nishimura, Gang Yu, Peter H St George-Hyslop

Journal:

Clinical Genetics

Year:

1999

Language:

english

File:

PDF, 234 KB

english, 1999

2

HotSpots

Journal:

Clinical Genetics

Year:

1999

Language:

english

File:

PDF, 252 KB

english, 1999

3

Genetic landmarks through philately – a brief history of diabetes mellitus

Albert E Chudley

Journal:

Clinical Genetics

Year:

1999

Language:

english

File:

PDF, 230 KB

english, 1999

4

The assent of a nation: genethics and Iceland

Melvin G McInnis

Journal:

Clinical Genetics

Year:

1999

Language:

english

File:

PDF, 135 KB

english, 1999

5

Autosomal dominant cataracts and Peters anomaly in a large Australian family

Stephen J Withers, Glen A Gole, Kim M Summers

Journal:

Clinical Genetics

Year:

1999

Language:

english

File:

PDF, 229 KB

english, 1999

6

Linkage disequilibrium mapping of the Nova Scotia variant of Niemann–Pick disease

WL Greer, DC Riddell, S Murty, TL Gillan, GS Girouard, SM Sparrow, C Tatlidil, MJ Dobson, PE Neumann

Journal:

Clinical Genetics

Year:

1999

Language:

english

File:

PDF, 274 KB

english, 1999

7

A proven case of materno-foetal transfusion determined by cytogenetic and DNA analysis

A Paoloni-Giacobino, Mh Dutoit, Ma Morris, Sp Dahoun

Journal:

Clinical Genetics

Year:

1999

Language:

english

File:

PDF, 126 KB

english, 1999

8

Procedure to protect confidentiality of familial data in community genetics and genomic research

Daniel Gaudet, Steve Arsenault, Céline Bélanger, Thomas Hudson, Patrice Perron, Manon Bernard, Pavel Hamet

Journal:

Clinical Genetics

Year:

1999

Language:

english

File:

PDF, 326 KB

english, 1999

9

An unbalanced half-cryptic translocation involving the 6q subtelomeric region and 2p25.3 in a child with mental retardation: uses and limitations of fluorescence insitu hybridization

JR Batanian, MI Hussain

Journal:

Clinical Genetics

Year:

1999

Language:

english

File:

PDF, 150 KB

english, 1999

10

Partial DiGeorge syndrome in two patients with a 10p rearrangement

Hilde Van Esch, Peter Groenen, Sarah Daw, Ann Poffyn, Maureen Holvoet, Peter Scambler, Jean-Pierre Fryns, Wim Van de Ven, Koen Devriendt

Journal:

Clinical Genetics

Year:

1999

Language:

english

File:

PDF, 364 KB

english, 1999

11

Clinical characteristics of Angelman syndrome patients with a non-IC-deleted imprinting mutation

Shinji Saitoh, Takahito Wada, Tateo Kuno, Kyoung Chang Kim, Hirofumi Ohashi, Katsuyo Hashimoto, Norio Niikawa

Journal:

Clinical Genetics

Year:

1999

Language:

english

File:

PDF, 97 KB

english, 1999

12

Identification of a common N540K mutation in 8/18 Taiwanese hypochondroplasia patients: further evidence for genetic heterogeneity

Fuu-Jen Tsai, Jer-Yuarn Wu, Chang-Hai Tsai, Jang-Gowth Chang

Journal:

Clinical Genetics

Year:

1999

Language:

english

File:

PDF, 103 KB

english, 1999

13

FokI polymorphism at the human vitamin D receptor gene locus in Europeans and Africans

Gérard Lucotte, Géraldine Mercier, André Burckel

Journal:

Clinical Genetics

Year:

1999

Language:

english

File:

PDF, 105 KB

english, 1999

14

Tetrasomy 21pter-q22.11: molecular, cytogenetic, and clinical findings

Roxana Cerretini, Verónica Luccerini, Mirta Stivel, Virginia Bañares, Isaac Aranda, Liliana Alba, Omar Pivetta, Irma Slavutsky

Journal:

Clinical Genetics

Year:

1999

Language:

english

File:

PDF, 163 KB

english, 1999

15

British Human Genetics Conference

Journal:

Clinical Genetics

Year:

1999

File:

PDF, 52 KB

1999