Volume 20; Issue 3

Journal of Medical Genetics

Volume 20; Issue 3

1

Microcephaly and intracranial calcification in two brothers

Baraitser, M, Brett, E M, Piesowicz, A T

Journal:

Journal of Medical Genetics

Year:

1983

Language:

english

File:

PDF, 605 KB

english, 1983

2

The cause of neural tube defects: some experiments and a hypothesis.

Journal:

Journal of Medical Genetics

Year:

1983

Language:

english

File:

PDF, 677 KB

english, 1983

3

Fragile X chromosome: clinical and cytogenetic studies on cases from seven families.

McDermott, A, Walters, R, Howell, R T, Gardner, A

Journal:

Journal of Medical Genetics

Year:

1983

Language:

english

File:

PDF, 2.38 MB

english, 1983

4

Assessment of ear length and low set ears in newborn infants.

Sivan, Y, Merlob, P, Reisner, S H

Journal:

Journal of Medical Genetics

Year:

1983

Language:

english

File:

PDF, 281 KB

english, 1983

5

Intrauterine death: an approach to the analysis of genetic heterogeneity.

Bottini, E, Coromaldi, L, Carapella, E, Pascone, R, Nicotra, M, Coghi, I, Lucarini, N, Gloria-Bottini, F

Journal:

Journal of Medical Genetics

Year:

1983

Language:

english

File:

PDF, 445 KB

english, 1983

6

Apolipoprotein B detected in the plasma of a patient with homozygous hypobetalipoproteinaemia: implications for aetiology.

Berger, G M, Brown, G, Henderson, H E, Bonnici, F

Journal:

Journal of Medical Genetics

Year:

1983

Language:

english

File:

PDF, 1.24 MB

english, 1983

7

Two chromosome fragments in a child with Down's syndrome and transient chromosome aberrations in the mother.

Knuutila, S, Leisti, J, Salunen, R, Rossi, L

Journal:

Journal of Medical Genetics

Year:

1983

Language:

english

File:

PDF, 224 KB

english, 1983

8

Genetic Engineering 3

Journal:

Journal of Medical Genetics

Year:

1983

Language:

english

File:

PDF, 91 KB

english, 1983

9

Interstitial duplication/deletion owing to unequal crossing-over in association with pericentric inversion.

Journal:

Journal of Medical Genetics

Year:

1983

Language:

english

File:

PDF, 225 KB

english, 1983

10

Heterogeneity of osteogenesis imperfecta type I.

Paterson, C R, McAllion, S, Miller, R

Journal:

Journal of Medical Genetics

Year:

1983

Language:

english

File:

PDF, 348 KB

english, 1983

11

Sister Chromatid Exchange

Journal:

Journal of Medical Genetics

Year:

1983

Language:

english

File:

PDF, 191 KB

english, 1983

12

Demonstration of the fra(X) in lymphocytes, fibroblasts, and bone marrow in a patient with a testicular tumour.

Del Pozo, B C, Millard, P R

Journal:

Journal of Medical Genetics

Year:

1983

Language:

english

File:

PDF, 889 KB

english, 1983

13

The Genetics of Neurological Disorders

Journal:

Journal of Medical Genetics

Year:

1983

Language:

english

File:

PDF, 342 KB

english, 1983

14

Proximal 15q monosomy

Smith, A., Dulk, G. d.

Journal:

Journal of Medical Genetics

Year:

1983

Language:

english

File:

PDF, 146 KB

english, 1983

15

Association between phosphoglucomutase (PGM1) and group-specific component (Gc) subtypes and tuberculosis.

Papiha, S S, Agarwal, S S, White, I

Journal:

Journal of Medical Genetics

Year:

1983

Language:

english

File:

PDF, 387 KB

english, 1983

16

Clinical Genetics: Problems in Diagnosis and Counseling

Journal:

Journal of Medical Genetics

Year:

1983

Language:

english

File:

PDF, 364 KB

english, 1983

17

Intestinal obstruction and cystic fibrosis: antenatal ultrasound appearance.

Shalev, J, Navon, R, Urbach, D, Mashiach, S, Goldman, B

Journal:

Journal of Medical Genetics

Year:

1983

Language:

english

File:

PDF, 268 KB

english, 1983

18

alpha-Thalassaemia in Apulia: biosynthetic studies.

Guanti, G, Lonoce, A, Pietrapertosa, A, Polimeno, G, Tannoia, N

Journal:

Journal of Medical Genetics

Year:

1983

Language:

english

File:

PDF, 566 KB

english, 1983

19

Serum gonadotrophins in Down's syndrome

Journal:

Journal of Medical Genetics

Year:

1983

Language:

english

File:

PDF, 297 KB

english, 1983

20

Additional manifestations of the Neu-Laxova syndrome.

Turkel, S B, Ebbin, A J, Towner, J W

Journal:

Journal of Medical Genetics

Year:

1983

Language:

english

File:

PDF, 567 KB

english, 1983

21

Paracentric inversions: two new familial cases, inv (7)(q22q11) and inv (11)(q23q13).

Orye, E, Van Bever, H

Journal:

Journal of Medical Genetics

Year:

1983

Language:

english

File:

PDF, 190 KB

english, 1983

22

La Pratique de l'Analyse Chromosomique

Journal:

Journal of Medical Genetics

Year:

1983

Language:

english

File:

PDF, 184 KB

english, 1983

23

Orthopaedic Problems in Inherited Skeletal Disorders

Wynne-Davies, R.

Journal:

Journal of Medical Genetics

Year:

1983

Language:

english

File:

PDF, 184 KB

english, 1983

24

Deletion 2q: two new cases with karyotypes 46,XY,del(2)(q31q33) and 46,XX,del(2)(q36).

Young, R S, Shapiro, S D, Hansen, K L, Hine, L K, Rainosek, D E, Guerra, F A

Journal:

Journal of Medical Genetics

Year:

1983

Language:

english

File:

PDF, 625 KB

english, 1983

25

A syndrome of hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and ECG abnormalities.

Woodhouse, N J, Sakati, N A

Journal:

Journal of Medical Genetics

Year:

1983

Language:

english

File:

PDF, 648 KB

english, 1983

26

Editorial

Journal:

Journal of Medical Genetics

Year:

1983

Language:

english

File:

PDF, 397 KB

english, 1983

27

Correction

Journal:

Journal of Medical Genetics

Year:

1983

Language:

english

File:

PDF, 124 KB

english, 1983

28

Mid-trimester diagnosis of bladder neck obstruction by ultrasound and paracentesis.

Shalev, J, Ben-Rafael, Z, Goldman, B, Engelberg, I, Mashiach, S

Journal:

Journal of Medical Genetics

Year:

1983

Language:

english

File:

PDF, 453 KB

english, 1983

29

Attitudes of subjects at risk and their relatives towards genetic counselling in Huntington's chorea.

Tyler, A, Harper, P S

Journal:

Journal of Medical Genetics

Year:

1983

Language:

english

File:

PDF, 1.51 MB

english, 1983