Volume 28; Issue 7

Journal of Medical Genetics

Volume 28; Issue 7

1

Normal MPS excretion, but dermatan sulphaturia, combined with a mild Maroteaux-Lamy phenotype.

Tonnesen, T, Gregersen, H N, Guttler, F

Journal:

Journal of Medical Genetics

Year:

1991

Language:

english

File:

PDF, 374 KB

english, 1991

2

Genetic localisation of the RP2 type of X linked retinitis pigmentosa in a large kindred.

Wright, A F, Bhattacharya, S S, Aldred, M A, Jay, M, Carothers, A D, Thomas, N S, Bird, A C, Jay, B, Evans, H J

Journal:

Journal of Medical Genetics

Year:

1991

Language:

english

File:

PDF, 739 KB

english, 1991

3

Genochondromatosis.

Le Merrer, M, Fressinger, P, Maroteaux, P

Journal:

Journal of Medical Genetics

Year:

1991

Language:

english

File:

PDF, 1.20 MB

english, 1991

4

Von Hippel-Lindau disease: a genetic study.

Maher, E R, Iselius, L, Yates, J R, Littler, M, Benjamin, C, Harris, R, Sampson, J, Williams, A, Ferguson-Smith, M A, Morton, N

Journal:

Journal of Medical Genetics

Year:

1991

Language:

english

File:

PDF, 826 KB

english, 1991

5

Characterisation of a glycine to valine substitution at amino acid position 910 of the triple helical region of type III collagen in a patient with Ehlers-Danlos syndrome type IV.

Richards, A J, Lloyd, J C, Ward, P N, De Paepe, A, Narcisi, P, Pope, F M

Journal:

Journal of Medical Genetics

Year:

1991

Language:

english

File:

PDF, 1.32 MB

english, 1991

6

Maxillonasal dysplasia (Binder's syndrome) and chondrodysplasia punctata.

Sheffield, L J, Halliday, J L, Jensen, F

Journal:

Journal of Medical Genetics

Year:

1991

Language:

english

File:

PDF, 379 KB

english, 1991

7

Triphalangeal thumb with delta phalanx in a case of Klinefelter's syndrome.

Lai, M M, Spencer, J D, Montandon, J A, Berry, A C

Journal:

Journal of Medical Genetics

Year:

1991

Language:

english

File:

PDF, 365 KB

english, 1991

8

A nonsense mutation in the tyrosinase gene of Afghan patients with tyrosinase negative (type IA) oculocutaneous albinism.

Giebel, L B, Musarella, M A, Spritz, R A

Journal:

Journal of Medical Genetics

Year:

1991

Language:

english

File:

PDF, 719 KB

english, 1991

9

Bilateral split hand and split foot malformation in a boy with a de novo interstitial deletion of 7q21.3

Roberts, S H, Hughes, H E, Davies, S J, Meredith, A L

Journal:

Journal of Medical Genetics

Year:

1991

Language:

english

File:

PDF, 827 KB

english, 1991

10

Hypoglossia-hypodactyly syndrome with hydrocephalus: a clue to the aetiology?

Gillerot, Y, Van Maldergem, L, Chef, R, Koulischer, L

Journal:

Journal of Medical Genetics

Year:

1991

Language:

english

File:

PDF, 566 KB

english, 1991

11

Prenatal Diagnosis and Prognosis

Journal:

Journal of Medical Genetics

Year:

1991

Language:

english

File:

PDF, 176 KB

english, 1991

12

A rare heteromorphism of chromosome 20 and reproductive loss.

Romain, D R, Whyte, S, Callen, D F, Eyre, H J

Journal:

Journal of Medical Genetics

Year:

1991

Language:

english

File:

PDF, 480 KB

english, 1991

13

Application of D'Arcy Thompson's coordinate transformation approach to clinical genetics photographs using image processing techniques.

Journal:

Journal of Medical Genetics

Year:

1991

Language:

english

File:

PDF, 1.18 MB

english, 1991

14

Parental mosaicism in de novo translocation (21q21q) Down's syndrome.

Croci, G, Franchi, F

Journal:

Journal of Medical Genetics

Year:

1991

Language:

english

File:

PDF, 133 KB

english, 1991

15

Congenital intestinal pseudo-obstruction associated with a giant platelet disorder

Pollock, I, Holmes, S J K, Patton, M A, Hamilton, P A, Stacey, T E

Journal:

Journal of Medical Genetics

Year:

1991

Language:

english

File:

PDF, 192 KB

english, 1991

16

Sister chromatid exchange evaluation as an aid to the diagnosis and exclusion of Fanconi's anaemia by induced chromosome damage analysis.

Journal:

Journal of Medical Genetics

Year:

1991

Language:

english

File:

PDF, 847 KB

english, 1991

17

Familial occurrence of tumours of the choroid plexus.

Zwetsloot, C P, Kros, J M, Paz y Gueze, H D

Journal:

Journal of Medical Genetics

Year:

1991

Language:

english

File:

PDF, 681 KB

english, 1991

18

Predictive diagnosis of myotonic dystrophy with flanking microsatellite markers.

Mulley, J C, Gedeon, A K, White, S J, Haan, E A, Richards, R I

Journal:

Journal of Medical Genetics

Year:

1991

Language:

english

File:

PDF, 829 KB

english, 1991

19

Osteogenesis imperfecta: translation of mutation to phenotype.

Byers, P H, Wallis, G A, Willing, M C

Journal:

Journal of Medical Genetics

Year:

1991

Language:

english

File:

PDF, 1.66 MB

english, 1991

20

Tyrosinase positive albinism with familial 46,XY,t(2;4) (q31.2;q31.22) balanced translocation.

Walpole, I R, Mulcahy, M T

Journal:

Journal of Medical Genetics

Year:

1991

Language:

english

File:

PDF, 527 KB

english, 1991

21

Correction

Journal:

Journal of Medical Genetics

Year:

1991

Language:

english

File:

PDF, 71 KB

english, 1991

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