Volume 33; Issue 2

Journal of Medical Genetics

Volume 33; Issue 2

1

Familial psychiatric presentation of Huntington's disease.

Lovestone, S, Hodgson, S, Sham, P, Differ, A M, Levy, R

Journal:

Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 716 KB

english, 1996

2

Gene deletions in spinal muscular atrophy.

Rodrigues, N R, Owen, N, Talbot, K, Patel, S, Muntoni, F, Ignatius, J, Dubowitz, V, Davies, K E

Journal:

Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 852 KB

english, 1996

3

Three prevalent mutations in a patient with phenylalanine hydroxylase deficiency: implications for diagnosis and genetic counselling.

Guldberg, P, Levy, H L, Henriksen, K F, Guttler, F

Journal:

Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 879 KB

english, 1996

4

Selection for presymptomatic testing for Huntington's disease: who decides?

Binedell, J, Soldan, J R, Harper, P S

Journal:

Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 680 KB

english, 1996

5

A genetic register for von Hippel-Lindau disease.

Maddock, I R, Moran, A, Maher, E R, Teare, M D, Norman, A, Payne, S J, Whitehouse, R, Dodd, C, Lavin, M, Hartley, N, Super, M, Evans, D G

Journal:

Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 1.46 MB

english, 1996

6

Medical genetics: advances in brief: Fibrosing colonopathy in cystic fibrosis: results of a case-control study

Journal:

Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 168 KB

english, 1996

7

Familial adenomatous polyposis in a 5 year old child: a clinical, pathological, and molecular genetic study.

Distante, S, Nasioulas, S, Somers, G R, Cameron, D J, Young, M A, Forrest, S M, Gardner, R J

Journal:

Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 806 KB

english, 1996

8

Five novel mutations in the L1CAM gene in families with X linked hydrocephalus.

Gu, S M, Orth, U, Veske, A, Enders, H, Klunder, K, Schlosser, M, Engel, W, Schwinger, E, Gal, A

Journal:

Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 767 KB

english, 1996

9

Apolipoprotein E genotype does not affect age at onset in patients with chromosome 14 encoded Alzheimer's disease.

Journal:

Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 597 KB

english, 1996

10

Medical genetics: advances in brief: Magnetic resonance imaging in phenylketonuria

Clayton-Smith, J.

Journal:

Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 292 KB

english, 1996

11

Congenital Limb Deficiencies in Hungary. Genetic and Teratologic Epidemiological Studies

Journal:

Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 307 KB

english, 1996

12

Main clinical features of the three mapped autosomal recessive limb-girdle muscular dystrophies and estimated proportion of each form in 13 Brazilian families.

Passos-Bueno, M R, Moreira, E S, Marie, S K, Bashir, R, Vasquez, L, Love, D R, Vainzof, M, Iughetti, P, Oliveira, J R, Bakker, E, Strachan, T, Bushby, K, Zatz, M

Journal:

Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 1.07 MB

english, 1996

13

Nijmegen breakage syndrome.

van der Burgt, I, Chrzanowska, K H, Smeets, D, Weemaes, C

Journal:

Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 1.14 MB

english, 1996

14

Dermatology and the New Genetics

Journal:

Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 116 KB

english, 1996

15

Clinical features in 27 patients with Angelman syndrome resulting from DNA deletion.

Smith, A, Wiles, C, Haan, E, McGill, J, Wallace, G, Dixon, J, Selby, R, Colley, A, Marks, R, Trent, R J

Journal:

Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 1.14 MB

english, 1996

16

Association between alcoholism and the dopamine D4 receptor gene.

Muramatsu, T, Higuchi, S, Murayama, M, Matsushita, S, Hayashida, M

Journal:

Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 569 KB

english, 1996

17

Medical genetics: advances in brief: Linkage to BRCA 2 region in hereditary male breast cancer

Journal:

Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 292 KB

english, 1996

18

Monozygotic twins with 22q11 deletion and discordant phenotypes.

Journal:

Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 390 KB

english, 1996

19

The genetics of cornea plana congenita.

Tahvanainen, E, Forsius, H, Kolehmainen, J, Damsten, M, Fellman, J, de la Chapelle, A

Journal:

Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 627 KB

english, 1996

20

A new point mutation in the luteinising hormone receptor gene in familial and sporadic male limited precocious puberty: genotype does not always correlate with phenotype.

Evans, B A, Bowen, D J, Smith, P J, Clayton, P E, Gregory, J W

Journal:

Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 1.43 MB

english, 1996

21

Down syndrome in sub-Saharan Africa.

Christianson, A L

Journal:

Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 703 KB

english, 1996

22

Medical genetics: advances in brief: Psychosocial adaptation of 39 adolescents with sex chromosome abnormalities

Clayton-Smith, J.

Journal:

Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 448 KB

english, 1996

23

On the genetics of hypodontia and microdontia: synergism or allelism of major genes in a family with six affected members.

Lyngstadaas, S P, Nordbo, H, Gedde-Dahl, T, Thrane, P S

Journal:

Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 1.32 MB

english, 1996

24

The clinical, molecular, and pathological characterisation of a family with two cases of lethal perinatal type 2 Gaucher disease.

Sidransky, E, Tayebi, N, Stubblefield, B K, Eliason, W, Klineburgess, A, Pizzolato, G P, Cox, J N, Porta, J, Bottani, A, DeLozier-Blanchet, C D

Journal:

Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 1.73 MB

english, 1996

25

A cytogenetic deletion, del(17)(q11.22q21.1), in a patient with sporadic neurofibromatosis type 1 (NF1) associated with dysmorphism and developmental delay.

Upadhyaya, M, Roberts, S H, Maynard, J, Sorour, E, Thompson, P W, Vaughan, M, Wilkie, A O, Hughes, H E

Journal:

Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 2.18 MB

english, 1996

26

The relationship between (CAG)n repeat number and age of onset in a family with dentatorubral-pallidoluysian atrophy (DRPLA): diagnostic implications of confirmatory and predictive testing.

Journal:

Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 578 KB

english, 1996

27

Medical genetics: advances in brief: Deletions of the survival motor neuron gene in unaffected siblings of patients with spinal muscular atrophy

Journal:

Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 292 KB

english, 1996

28

CTG repeat length in muscle from patients affected with myotonic dystrophy (DM)

Zatz, M, Passos-Bueno, M R, Cerqueira, A, Vainzof, M

Journal:

Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 390 KB

english, 1996

29

Gene Therapy: A Handbook for Physicians

Journal:

Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 307 KB

english, 1996

30

Femoral hypoplasia-unusual facies syndrome with bifid hallux, absent tibia, and macrophallus: a report of a Bedouin baby.

Sabry, M A, Obenbergerova, D, Al-Sawan, R, Saleh, Q A, Farah, S, Al-Awadi, S A, Farag, T I

Journal:

Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 731 KB

english, 1996

31

Gene deletions in spinal muscular atrophy.

Rodrigues, N R, Owen, N, Talbot, K, Patel, S, Muntoni, F, Ignatius, J, Dubowitz, V, Davies, K E

Journal:

Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 834 KB

english, 1996

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