Volume 31; Issue 9

Journal of Medical Genetics

Volume 31; Issue 9

1

Genetic epidemiology of single gene defects in Chile.

Cruz-Coke, R, Moreno, R S

Journal:

Journal of Medical Genetics

Year:

1994

Language:

english

File:

PDF, 697 KB

english, 1994

2

"CATCH 22" sans cardiac anomaly, thymic hypoplasia, cleft palate, and hypocalcaemia: cAtch 22. A common result of 22q11 deficiency?

Lipson, A, Emanuel, B, Colley, P, Fagan, K, Driscoll, D A

Journal:

Journal of Medical Genetics

Year:

1994

Language:

english

File:

PDF, 355 KB

english, 1994

3

The arylsulphatase A gene and molecular genetics of metachromatic leucodystrophy.

Barth, M L, Fensom, A, Harris, A

Journal:

Journal of Medical Genetics

Year:

1994

Language:

english

File:

PDF, 785 KB

english, 1994

4

The Pallister-Hall syndrome.

Sama, A, Mason, J D, Gibbin, K P, Young, I D, Hewitt, M

Journal:

Journal of Medical Genetics

Year:

1994

Language:

english

File:

PDF, 428 KB

english, 1994

5

A gene for pachyonychia congenita is closely linked to the keratin gene cluster on 17q12-q21.

Munro, C S, Carter, S, Bryce, S, Hall, M, Rees, J L, Kunkeler, L, Stephenson, A, Strachan, T

Journal:

Journal of Medical Genetics

Year:

1994

Language:

english

File:

PDF, 1.02 MB

english, 1994

6

Asymmetry and skin pigmentary anomalies in chromosome mosaicism.

Woods, C G, Bankier, A, Curry, J, Sheffield, L J, Slaney, S F, Smith, K, Voullaire, L, Wellesley, D

Journal:

Journal of Medical Genetics

Year:

1994

Language:

english

File:

PDF, 2.71 MB

english, 1994

7

An interstitial deletion of chromosome 7(q35).

Fagan, K, Kennedy, C, Roddick, L, Colley, A

Journal:

Journal of Medical Genetics

Year:

1994

Language:

english

File:

PDF, 493 KB

english, 1994

8

A cluster of cystic fibrosis mutations in exon 17b of the CFTR gene: a site for rare mutations.

Mercier, B, Lissens, W, Novelli, G, Kalaydjieva, L, de Arce, M, Kapranov, N, Canki Klain, N, Estivill, X, Palacio, A, Cashman, S

Journal:

Journal of Medical Genetics

Year:

1994

Language:

english

File:

PDF, 805 KB

english, 1994

9

Familial Pallister-Hall syndrome.

Biesecker, L G, Topf, K, Graham, J M

Journal:

Journal of Medical Genetics

Year:

1994

Language:

english

File:

PDF, 428 KB

english, 1994

10

A single origin for the most frequent mutation causing late infantile metachromatic leucodystrophy.

Zlotogora, J, Furman-Shaharabani, Y, Harris, A, Barth, M L, von Figura, K, Gieselmann, V

Journal:

Journal of Medical Genetics

Year:

1994

Language:

english

File:

PDF, 544 KB

english, 1994

11

Frequency of arylsulphatase A pseudodeficiency associated mutations in a healthy population.

Barth, M L, Ward, C, Harris, A, Saad, A, Fensom, A

Journal:

Journal of Medical Genetics

Year:

1994

Language:

english

File:

PDF, 886 KB

english, 1994

12

Anticipation in Swedish families with bipolar affective disorder.

Nylander, P O, Engstrom, C, Chotai, J, Wahlstrom, J, Adolfsson, R

Journal:

Journal of Medical Genetics

Year:

1994

Language:

english

File:

PDF, 770 KB

english, 1994

13

FISH detection of trisomy 21 in interphase by the simultaneous use of two differentially labelled cosmid contigs.

Davies, A F, Barber, L, Murer-Orlando, M, Bobrow, M, Adinolfi, M

Journal:

Journal of Medical Genetics

Year:

1994

Language:

english

File:

PDF, 1.36 MB

english, 1994

14

Mulvihill-Smith syndrome: case report and review.

Bartsch, O, Tympner, K D, Schwinger, E, Gorlin, R J

Journal:

Journal of Medical Genetics

Year:

1994

Language:

english

File:

PDF, 1.58 MB

english, 1994

15

Study of the Huntington's disease (HD) gene CAG repeats in schizophrenic patients shows overlap of the normal and HD affected ranges but absence of correlation with schizophrenia.

Rubinsztein, D C, Leggo, J, Goodburn, S, Crow, T J, Lofthouse, R, DeLisi, L E, Barton, D E, Ferguson-Smith, M A

Journal:

Journal of Medical Genetics

Year:

1994

Language:

english

File:

PDF, 1.10 MB

english, 1994

16

Trisomy X in a female member of a family with X linked severe combined immunodeficiency: implications for carrier diagnosis.

Lester, T, de Alwis, M, Clark, P A, Jones, A M, Katz, F, Levinsky, R J, Kinnon, C

Journal:

Journal of Medical Genetics

Year:

1994

Language:

english

File:

PDF, 982 KB

english, 1994

17

Autosomal dominant simple microphthalmos.

Vingolo, E M, Steindl, K, Forte, R, Zompatori, L, Iannaccone, A, Sciarra, A, Del Porto, G, Pannarale, M R

Journal:

Journal of Medical Genetics

Year:

1994

Language:

english

File:

PDF, 1.17 MB

english, 1994

18

Diaphragmatic herniae and translocations involving 8q22 in two patients.

Temple, I K, Barber, J C, James, R S, Burge, D

Journal:

Journal of Medical Genetics

Year:

1994

Language:

english

File:

PDF, 422 KB

english, 1994

19

Cleft hand/foot: clinical and developmental aspects.

Journal:

Journal of Medical Genetics

Year:

1994

Language:

english

File:

PDF, 1.01 MB

english, 1994

20

Skeletal malformations and polycystic kidney disease.

Turco, A E, Peissel, B, Rossetti, S, Pignatti, P F, Padovani, E M, Chiaffoni, G P

Journal:

Journal of Medical Genetics

Year:

1994

Language:

english

File:

PDF, 554 KB

english, 1994

21

Homozygosity for a new mutation (Ile119-->Met) in the insulin receptor gene in five sibs with familial insulin resistance.

Hone, J, Accili, D, al-Gazali, L I, Lestringant, G, Orban, T, Taylor, S I

Journal:

Journal of Medical Genetics

Year:

1994

Language:

english

File:

PDF, 392 KB

english, 1994

22

Familial half cryptic translocation t(9;17).

Kohler, A, Hain, J, Muller, U

Journal:

Journal of Medical Genetics

Year:

1994

Language:

english

File:

PDF, 756 KB

english, 1994

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