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La Dystrophie Myotonique (Steinert) et la Myotonie Congenitale (Thomsen) en Suisse. Etude Clinique, Genetique et demographique
La Dystrophie Myotonique (Steinert) et la Myotonie Congenitale (Thomsen) en Suisse. Etude Clinique, Genetique et demographique
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La Dystrophie Myotonique (Steinert) et la Myotonie Congenitale (Thomsen) en Suisse. Etude Clinique, Genetique et demographique

Moor-Jankowski, Jan K.

American Journal of Human Genetics, 1959, Vol.11 (4), p.391-392 [Periódico revisado por pares]

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2
Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod syndrome
Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod syndrome
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Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod syndrome

FRANCKE, U ; OCHS, H. D ; WEDGWOOD, R. J ; DE MARTINVILLE, B ; GIACALONE, J ; LINDGREN, V ; DISTECHE, C ; PAGON, R. A ; HOFKER, M. H ; VAN OMMEN, G.-J. B ; PEARSON, P. L

American journal of human genetics, 1985-03, Vol.37 (2), p.250-267 [Periódico revisado por pares]

Chicago, IL: University of Chicago Press

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3
A long-range restriction map of the human chromosome 19q13 region: close physical linkage between CKMM and the ERCC1 and ERCC2 genes
A long-range restriction map of the human chromosome 19q13 region: close physical linkage between CKMM and the ERCC1 and ERCC2 genes
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A long-range restriction map of the human chromosome 19q13 region: close physical linkage between CKMM and the ERCC1 and ERCC2 genes

Smeets, H ; Bachinski, L ; Coerwinkel, M ; Schepens, J ; Hoeijmakers, J ; van Duin, M ; Grzeschik, K H ; Weber, C A ; de Jong, P ; Siciliano, M J

American journal of human genetics, 1990-03, Vol.46 (3), p.492-501 [Periódico revisado por pares]

United States

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4
An exonic point mutation of the androgen receptor gene in a family with complete androgen insensitivity
An exonic point mutation of the androgen receptor gene in a family with complete androgen insensitivity
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An exonic point mutation of the androgen receptor gene in a family with complete androgen insensitivity

SAI, T ; SEINO, S ; ROSENFIELD, R. L ; SHUTSUNG LIAO ; CHAWSHANG CHANG ; TRIFIRO, M ; PINSKY, L ; MHATRE, A ; KAUFMAN, M ; LAMBERT, B ; TRAPMAN, J ; BRINKMAN, A. O

American journal of human genetics, 1990-06, Vol.46 (6), p.1095-1100 [Periódico revisado por pares]

Chicago, IL: University of Chicago Press

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5
Exclusion of linkage between the human apolipoprotein B gene and abetalipoproteinemia
Exclusion of linkage between the human apolipoprotein B gene and abetalipoproteinemia
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Exclusion of linkage between the human apolipoprotein B gene and abetalipoproteinemia

LI-SHIN HUANG ; JAÊNNE, P. A ; DE GRAAF, J ; COOPER, M ; DECKLEBAUM, R. J ; KAYDEN, H ; BRESLOW, J. L

American journal of human genetics, 1990-06, Vol.46 (6), p.1141-1148 [Periódico revisado por pares]

Chicago, IL: University of Chicago Press

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6
Deletions within the pseudoautosomal region help map three new markers and indicate a possible role of this region in linear growth
Deletions within the pseudoautosomal region help map three new markers and indicate a possible role of this region in linear growth
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Deletions within the pseudoautosomal region help map three new markers and indicate a possible role of this region in linear growth

HENKE, A ; WAPENAAR, M ; VAN OMMEN, G.-J ; MARASCHIO, P ; CAMERINO, G ; RAPPOLD, G

American journal of human genetics, 1991-10, Vol.49 (4), p.811-819 [Periódico revisado por pares]

Chicago, IL: University of Chicago Press

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7
LINKAGE ANALYSIS OF KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, AND REGIONAL ASSIGNMENT TO HUMAN-CHROMOSOME XP21.2-P22.2
LINKAGE ANALYSIS OF KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, AND REGIONAL ASSIGNMENT TO HUMAN-CHROMOSOME XP21.2-P22.2
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LINKAGE ANALYSIS OF KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, AND REGIONAL ASSIGNMENT TO HUMAN-CHROMOSOME XP21.2-P22.2

OOSTERWIJK, JC ; NELEN, M ; VANZANDVOORT, PM ; VANOSCH, LDM ; ORANJE, AP ; WITTEBOPOST, D ; VANOOST, BA

American journal of human genetics, 1992-04, Vol.50 (4), p.801-807 [Periódico revisado por pares]

CHICAGO: Univ Chicago Press

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8
REPLACEMENT OF ARGININE-773 BY CYSTEINE OR HISTIDINE IN THE HUMAN ANDROGEN RECEPTOR CAUSES COMPLETE ANDROGEN INSENSITIVITY WITH DIFFERENT RECEPTOR PHENOTYPES
REPLACEMENT OF ARGININE-773 BY CYSTEINE OR HISTIDINE IN THE HUMAN ANDROGEN RECEPTOR CAUSES COMPLETE ANDROGEN INSENSITIVITY WITH DIFFERENT RECEPTOR PHENOTYPES
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REPLACEMENT OF ARGININE-773 BY CYSTEINE OR HISTIDINE IN THE HUMAN ANDROGEN RECEPTOR CAUSES COMPLETE ANDROGEN INSENSITIVITY WITH DIFFERENT RECEPTOR PHENOTYPES

PRIOR, L ; BORDET, S ; TRIFIRO, MA ; MHATRE, A ; KAUFMAN, M ; PINSKY, L ; WROGEMAN, K ; BELSHAM, DD ; PEREIRA, F ; GREENBERG, C ; TRAPMAN, J ; BRINKMAN, AO ; CHANG, C ; LIAO, SS

American journal of human genetics, 1992-07, Vol.51 (1), p.143-155 [Periódico revisado por pares]

CHICAGO: Univ Chicago Press

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9
Segregation and manifestations of the mtDNA tRNA(Lys) A-->G(8344) mutation of myoclonus epilepsy and ragged-red fibers (MERRF) syndrome
Segregation and manifestations of the mtDNA tRNA(Lys) A-->G(8344) mutation of myoclonus epilepsy and ragged-red fibers (MERRF) syndrome
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Segregation and manifestations of the mtDNA tRNA(Lys) A-->G(8344) mutation of myoclonus epilepsy and ragged-red fibers (MERRF) syndrome

Larsson, N G ; Tulinius, M H ; Holme, E ; Oldfors, A ; Andersen, O ; Wahlström, J ; Aasly, J

American journal of human genetics, 1992-12, Vol.51 (6), p.1201-1212 [Periódico revisado por pares]

United States

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10
Rubinstein-Taybi syndrome caused by submicroscopic deletions within 16p13.3
Rubinstein-Taybi syndrome caused by submicroscopic deletions within 16p13.3
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Rubinstein-Taybi syndrome caused by submicroscopic deletions within 16p13.3

BREUNING, M. H ; DAUWERSE, H. G ; VAN DEN BOOGAARD, M.-J ; DE PATER, J. M ; MARIMAN, E. C. M ; HAMEL, B. C. J ; HIMMELBAUER, H ; FRISCHAUF, A.-M ; STALLINGS, R. L ; HAMEL, B. C. J ; HIMMELBAUER, H ; FUGAZZA, G ; BEVERSTOCK, G. C ; VAN OMMEN, G.-J. B ; HENNEKAM, R. C. M ; SARIS, J. J ; SPRUIT, L ; WIJNEN, H ; TOMMERUP, N ; VAN DER HAGEN, C. B ; IMAIZUMI, K ; KUROKI, Y

American journal of human genetics, 1993-02, Vol.52 (2), p.249-254 [Periódico revisado por pares]

Chicago, IL: University of Chicago Press

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Deste Autor:

  1. Senderek, J
  2. Esquivel, E
  3. Schöneborn, S
  4. Sweeney, W
  5. Hou, X

Neste Assunto:

  1. Humans
  2. Genetics & Heredity
  3. Life Sciences & Biomedicine
  4. Science & Technology
  5. Female

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