Volume 105; Issue 3

Main
Human Genetics
Volume 105; Issue 3

Human Genetics

Volume 105; Issue 3

1

Genetic contribution of the BAT2 gene microsatellite polymorphism to the age-at-onset of insulin-dependent diabetes mellitus

M. Hashimoto, N. Nakamura, H. Obayashi, F. Kimura, A. Moriwaki, G. Hasegawa, H. Shigeta, Y. Kitagawa, K. Nakano, M. Kondo, M. Ohta, M. Nishimura

Journal:

Year:

1999

Language:

english

File:

PDF, 26 KB

english, 1999

2

Novel and recurrent mutations in the tyrosinase gene and the P gene in the German albino population

L. Passmore, B. Kaesmann-Kellner, B. Weber

Journal:

Year:

1999

Language:

english

File:

PDF, 116 KB

english, 1999

3

Alpha-tectorin involvement in hearing disabilities: one gene - two phenotypes

J. Balciuniene, N. Dahl, P. Jalonen, K. Verhoeven, G. Van Camp, E. Borg, U. Pettersson, E.E. Jazin

Journal:

Year:

1999

Language:

english

File:

PDF, 136 KB

english, 1999

4

Isolation of CAG/CTG repeats from within the chromosome 2p21-p24 locus for autosomal dominant spastic paraplegia (SPG4) by YAC fragmentation

J. Del-Favero, D. Goossens, P. De Jonghe, K. Benson, A. Michalik, D. Van den Bossche, M. Horwitz, C. Van Broeckhoven

Journal:

Year:

1999

Language:

english

File:

PDF, 186 KB

english, 1999

5

Dopa-responsive dystonia induced by a recessive GTP cyclohydrolase I mutation

W.-L. Hwu, P.-J. Wang, K.-J. Hsiao, T.-R. Wang, Y.-W. Chiou, Y.-M. Lee

Journal:

Year:

1999

Language:

english

File:

PDF, 128 KB

english, 1999

6

DGGE screening of PKD1 gene reveals novel mutations in a large cohort of 146 unrelated patients

R.A. Perrichot, B. Mercier, P.M. Simon, B. Whebe, J. Cledes, C. Ferec

Journal:

Year:

1999

Language:

english

File:

PDF, 115 KB

english, 1999

7

A mutation in GLUT2, not in phosphorylase kinase subunits, in hepato-renal glycogenosis with Fanconi syndrome and low phosphorylase kinase activity

B. Burwinkel, S.A. Sanjad, E. Al-Sabban, A. Al-Abbad, M.W. Kilimann

Journal:

Year:

1999

Language:

english

File:

PDF, 77 KB

english, 1999

8

Molecular genetics of human prion diseases in Germany

O. Windl, A. Giese, W. Schulz-Schaeffer, I. Zerr, K. Skworc, S. Arendt, C. Oberdieck, M. Bodemer, S. Poser, H.A. Kretzschmar

Journal:

Year:

1999

Language:

english

File:

PDF, 312 KB

english, 1999

9

Linkage of interleukin 6 locus to human osteopenia by sibling pair analysis

N. Ota, S.C. Hunt, T. Nakajima, T. Suzuki, T. Hosoi, H. Orimo, Y. Shirai, M. Emi

Journal:

Year:

1999

Language:

english

File:

PDF, 43 KB

english, 1999

10

Rapid FMR1-protein analysis of fetal blood: an enhancement of prenatal diagnostics

N. Lambiris, H. Peters, R. Bollmann, G. Leschik, J. Leisti, R. Salonen, G. Cobet, B.A. Oostra, R. Willemsen

Journal:

Year:

1999

Language:

english

File:

PDF, 122 KB

english, 1999

11

Detection of a novel missense mutation and second recurrent mutation in the CACNA1A gene in individuals with EA-2 and FHM

K.L. Friend, D. Crimmins, T.G. Phan, C.M. Sue, A. Colley, V.S.C. Fung, J.G.L. Morris, G.R. Sutherland, R.I. Richards

Journal:

Year:

1999

Language:

english

File:

PDF, 105 KB

english, 1999

12

Relationship between clinical phenotype, semen parameters and aneuploidy frequency in sperm nuclei of 50 infertile males

Nathalie Rives, Alexia Saint Clair, Sophie Mazurier, Louis Sibert, Nathalie Siméon, Géraldine Joly, Bertrand Macé

Journal:

Year:

1999

Language:

english

File:

PDF, 55 KB

english, 1999

13

Duplication of 7p12.1-p13, including GRB10 and IGFBP1, in a mother and daughter with features of Silver-Russell syndrome

C.A. Joyce, A. Sharp, J.M. Walker, H. Bullman, I.K. Temple

Journal:

Year:

1999

Language:

english

File:

PDF, 198 KB

english, 1999

14

Vitamin D receptor polymorphisms as markers in prostate cancer

L. Correa-Cerro, P. Berthon, J. Häussler, S. Bochum, E. Drelon, P. Mangin, G. Fournier, T. Paiss, O. Cussenot, W. Vogel

Journal:

Year:

1999

Language:

english

File:

PDF, 99 KB

english, 1999

15

Reorganization of the sex-determining pathway with the evolution of placentation

Journal:

Year:

1999

Language:

english

File:

PDF, 43 KB

english, 1999

16

Analysis of a paracentric inversion in human oocytes: nonhomologous pairing in pachytene

E.Y. Cheng, Y.J. Chen, C.M. Disteche, S.M. Gartler

Journal:

Year:

1999

Language:

english

File:

PDF, 187 KB

english, 1999

17

Relationship between clinical phenotype, semen parameters and aneuploidy frequency in sperm nuclei of 50 infertile males

Nathalie Rives,Alexia Saint Clair,Sophie Mazurier,Louis Sibert…

Journal:

Year:

1999

Language:

english

File:

PDF, 55 KB

english, 1999

18

Alpha-tectorin involvement in hearing disabilities: one gene – two phenotypes

J. Balciuniene,N. Dahl,P. Jalonen,K. Verhoeven,G. Van Camp,E. Borg…

Journal:

Year:

1999

Language:

english

File:

PDF, 136 KB

english, 1999

19

Genetic contribution of the BAT2 gene microsatellite polymorphism to the age-at-onset of insulin-dependent diabetes mellitus

M. Hashimoto,N. Nakamura,H. Obayashi,F. Kimura,A. Moriwaki…

Journal:

Year:

1999

Language:

english

File:

PDF, 26 KB

english, 1999

20

Detection of a novel missense mutation and second recurrent mutation in theCACNA1Agene in individuals with EA-2 and FHM

K.L. Friend,D. Crimmins,T.G. Phan,C.M. Sue,A. Colley,V.S.C. Fung…

Journal:

Year:

1999

Language:

english

File:

PDF, 105 KB

english, 1999

21

Novel and recurrent mutations in the tyrosinase gene and the P

L. Passmore,B. Kaesmann-Kellner,B. Weber

Journal:

Year:

1999

Language:

english

File:

PDF, 116 KB

english, 1999

22

Isolation of CAG/CTG repeats from within the chromosome 2p21-p24 locus for autosomal dominant spastic paraplegia (SPG4) by YAC fragmentation

J. Del-Favero,D. Goossens,P. De Jonghe,K. Benson,A. Michalik…

Journal:

Year:

1999

Language:

english

File:

PDF, 186 KB

english, 1999

23

Dopa-responsive dystonia induced by a recessive GTP cyclohydrolase I mutation

W.-L. Hwu,P.-J. Wang,K.-J. Hsiao,T.-R. Wang,Y.-W. Chiou,Y.-M. Lee

Journal:

Year:

1999

Language:

english

File:

PDF, 128 KB

english, 1999

24

Reorganization of the sex-determining pathway with the evolution of placentation

Journal:

Year:

1999

Language:

english

File:

PDF, 43 KB

english, 1999

25

Vitamin D receptor polymorphisms as markers in prostate cancer

L. Correa-Cerro,P. Berthon,J. Häussler,S. Bochum,E. Drelon,P. Mangin…

Journal:

Year:

1999

Language:

english

File:

PDF, 99 KB

english, 1999

26

DGGE screening ofPKD1gene reveals novel mutations in a large cohort of 146 unrelated patients

R.A. Perrichot,B. Mercier,P.M. Simon,B. Whebe,J. Cledes,C. Ferec

Journal:

Year:

1999

Language:

english

File:

PDF, 115 KB

english, 1999

27

A mutation in GLUT2, not in phosphorylase kinase subunits, in hepato-renal glycogenosis with Fanconi syndrome and low phosphorylase kinase activity

B. Burwinkel,S.A. Sanjad,E. Al-Sabban,A. Al-Abbad,M.W. Kilimann

Journal:

Year:

1999

Language:

english

File:

PDF, 77 KB

english, 1999

28

Molecular genetics of human prion diseases in Germany

O. Windl,A. Giese,W. Schulz-Schaeffer,I. Zerr,K. Skworc,S. Arendt…

Journal:

Year:

1999

Language:

english

File:

PDF, 312 KB

english, 1999

29

Linkage of interleukin 6 locus to human osteopenia by sibling pair analysis

N. Ota,S.C. Hunt,T. Nakajima,T. Suzuki,T. Hosoi,H. Orimo,Y. Shirai…

Journal:

Year:

1999

Language:

english

File:

PDF, 43 KB

english, 1999

30

Rapid FMR1-protein analysis of fetal blood: an enhancement of prenatal diagnostics

N. Lambiris,H. Peters,R. Bollmann,G. Leschik,J. Leisti,R. Salonen…

Journal:

Year:

1999

Language:

english

File:

PDF, 122 KB

english, 1999

31

Duplication of 7p12.1-p13, includingGRB10andIGFBP1, in a mother and daughter with features of Silver-Russell syndrome

C.A. Joyce,A. Sharp,J.M. Walker,H. Bullman,I.K. Temple

Journal:

Year:

1999

Language:

english

File:

PDF, 198 KB

english, 1999

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