Volume 22; Issue 2

Journal of Medical Genetics

Volume 22; Issue 2

1

Perspectives in Mutation Epidemiology

Journal:

Journal of Medical Genetics

Year:

1985

Language:

english

File:

PDF, 322 KB

english, 1985

2

Familial occurrence of a pseudodicentric chromosome 21.

Hancke, I, Miller, K

Journal:

Journal of Medical Genetics

Year:

1985

Language:

english

File:

PDF, 433 KB

english, 1985

3

Frequency and replication status of the fragile X, fra(X)(q27-28), in a pair of monozygotic twins of markedly differing intelligence.

Tuckerman, E, Webb, T, Bundey, S E

Journal:

Journal of Medical Genetics

Year:

1985

Language:

english

File:

PDF, 1.44 MB

english, 1985

4

Severe pseudoachondroplasia with parental consanguinity.

Young, I D, Moore, J R

Journal:

Journal of Medical Genetics

Year:

1985

Language:

english

File:

PDF, 726 KB

english, 1985

5

Cell surface abnormality in clones of skin fibroblasts from a carrier of Duchenne muscular dystrophy.

Hillier, J, Jones, G E, Statham, H E, Witkowski, J A, Dubowitz, V

Journal:

Journal of Medical Genetics

Year:

1985

Language:

english

File:

PDF, 544 KB

english, 1985

6

Editorial

Journal:

Journal of Medical Genetics

Year:

1985

Language:

english

File:

PDF, 632 KB

english, 1985

7

De novo paracentric inversion in an X chromosome.

Herr, H M, Horton, S J, Scott, C I

Journal:

Journal of Medical Genetics

Year:

1985

Language:

english

File:

PDF, 423 KB

english, 1985

8

A case of suspected teratogenic holoprosencephaly.

Stabile, M, Bianco, A, Iannuzzi, S, Buonocore, M C, Ventruto, V

Journal:

Journal of Medical Genetics

Year:

1985

Language:

english

File:

PDF, 552 KB

english, 1985

9

A pedigree study of perinatally lethal renal disease.

Bankier, A, de Campo, M, Newell, R, Rogers, J G, Danks, D M

Journal:

Journal of Medical Genetics

Year:

1985

Language:

english

File:

PDF, 1.12 MB

english, 1985

10

Monosomy 13q32.3----qter: report of two cases.

Rivera, H, Gonzalez-Flores, S A, Rivas, F, Sanchez-Corona, J, Moller, M, Cantu, J M

Journal:

Journal of Medical Genetics

Year:

1985

Language:

english

File:

PDF, 591 KB

english, 1985

11

Alkaptonuria

Journal:

Journal of Medical Genetics

Year:

1985

Language:

english

File:

PDF, 166 KB

english, 1985

12

The frequency of lactase phenotypes in Aymara children.

Balanza, E, Taboada, G

Journal:

Journal of Medical Genetics

Year:

1985

Language:

english

File:

PDF, 300 KB

english, 1985

13

Advances in Human Genetics

Journal:

Journal of Medical Genetics

Year:

1985

Language:

english

File:

PDF, 168 KB

english, 1985

14

A case of malignant spinal cord ependymoma in association with a duplication of part of the long arm of chromosome 12.

Neville, B G, Berry, A C, Stoddart, Y

Journal:

Journal of Medical Genetics

Year:

1985

Language:

english

File:

PDF, 174 KB

english, 1985

15

Extra euchromatic band in the qh region of chromosome 9.

Docherty, Z, Hulten, M A

Journal:

Journal of Medical Genetics

Year:

1985

Language:

english

File:

PDF, 432 KB

english, 1985

16

Dermatoglyphs in children with mitral valve prolapse.

Tay, J S, Yip, W C, Yap, H K, Lee, B W, Wong, H B, Chay, S O

Journal:

Journal of Medical Genetics

Year:

1985

Language:

english

File:

PDF, 233 KB

english, 1985

17

Recombinant DNA and Medical Genetics

Journal:

Journal of Medical Genetics

Year:

1985

Language:

english

File:

PDF, 168 KB

english, 1985

18

Interstitial deletion of chromosome 2.

Markovic, S, Krstic, M, Sulovic, V, Radojkovic, Z, Adzic, S

Journal:

Journal of Medical Genetics

Year:

1985

Language:

english

File:

PDF, 320 KB

english, 1985

19

An autosomal dominant syndrome with 'acromegaloid' features and thickened oral mucosa.

Hughes, H E, McAlpine, P J, Cox, D W, Philipps, S

Journal:

Journal of Medical Genetics

Year:

1985

Language:

english

File:

PDF, 1.39 MB

english, 1985

20

The clinical features of the Cohen syndrome: further case reports.

North, C, Patton, M A, Baraitser, M, Winter, R M

Journal:

Journal of Medical Genetics

Year:

1985

Language:

english

File:

PDF, 826 KB

english, 1985

21

First trimester fetal diagnosis of genetic disorders: clinical evaluation of 250 cases.

Brambati, B, Simoni, G, Danesino, C, Oldrini, A, Ferrazzi, E, Romitti, L, Terzoli, G, Rossella, F, Ferrari, M, Fraccaro, M

Journal:

Journal of Medical Genetics

Year:

1985

Language:

english

File:

PDF, 1.16 MB

english, 1985

22

Congenital diaphragmatic hernia in half sibs.

Lipson, A H, Williams, G

Journal:

Journal of Medical Genetics

Year:

1985

Language:

english

File:

PDF, 463 KB

english, 1985

23

Kabuki make-up syndrome (Niikawa-Kuroki syndrome) associated with congenital heart disease.

Ohdo, S, Madokoro, H, Sonoda, T, Nishiguchi, T, Kawaguchi, K, Hayakawa, K

Journal:

Journal of Medical Genetics

Year:

1985

Language:

english

File:

PDF, 427 KB

english, 1985

24

Abstracts of the meeting of the Clinical Genetics Society held on 8, 9, and 10 November 1984 at the Royal Free Hospital, London

Journal:

Journal of Medical Genetics

Year:

1985

Language:

english

File:

PDF, 516 KB

english, 1985

25

Necropsy findings in neonatal asphyxiating thoracic dystrophy.

Turkel, S B, Diehl, E J, Richmond, J A

Journal:

Journal of Medical Genetics

Year:

1985

Language:

english

File:

PDF, 1.40 MB

english, 1985

26

Tracheo-oesophageal anomalies in the Goldenhar anomalad.

Mendelberg, A, Ariel, I, Mogle, P, Arad, I

Journal:

Journal of Medical Genetics

Year:

1985

Language:

english

File:

PDF, 382 KB

english, 1985

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