Results
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MECP2 gene mutations in non-syndromic X-linked mental retardation: phenotype-genotype correlation. [electronic resource] by
- Gomot, Marie
- Gendrot, Chantal
- Verloes, Alain
- Raynaud, Martine
- David, Albert
- Yntema, Helger G
- Dessay, Sabine
- Kalscheuer, Vera
- Frints, Suzanne
- Couvert, Philippe
- Briault, Sylvain
- Blesson, Sophie
- Toutain, Annick
- Chelly, Jamel
- Desportes, Vincent
- Moraine, Claude
Producer: 20040716
In:
American journal of medical genetics. Part A vol. 123A
Availability: No items available.
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Osteopathia striata with cranial sclerosis owing to WTX gene defect. [electronic resource] by
- Perdu, Bram
- de Freitas, Fenna
- Frints, Suzanne G M
- Schouten, Meyke
- Schrander-Stumpel, Connie
- Barbosa, Mafalda
- Pinto-Basto, Jorge
- Reis-Lima, Margarida
- de Vernejoul, Marie-Christine
- Becker, Kristin
- Freckmann, Marie-Louise
- Keymolen, Kathlijn
- Haan, Eric
- Savarirayan, Ravi
- Koenig, Rainer
- Zabel, Bernhard
- Vanhoenacker, Filip M
- Van Hul, Wim
Producer: 20100708
In:
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research vol. 25
Availability: No items available.
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ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation. [electronic resource] by
- Bienvenu, Thierry
- Poirier, Karine
- Friocourt, Gaelle
- Bahi, Nadia
- Beaumont, Delphine
- Fauchereau, Fabien
- Ben Jeema, Lamia
- Zemni, Ramzi
- Vinet, Marie-Claude
- Francis, Fiona
- Couvert, Philippe
- Gomot, Marie
- Moraine, Claude
- van Bokhoven, Hans
- Kalscheuer, Vera
- Frints, Suzanne
- Gecz, Josef
- Ohzaki, Kanae
- Chaabouni, Habiba
- Fryns, Jean-Pierre
- Desportes, Vincent
- Beldjord, Cherif
- Chelly, Jamel
Producer: 20030103
In:
Human molecular genetics vol. 11
Availability: No items available.
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Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus. [electronic resource] by
- Crow, Yanick J
- Hayward, Bruce E
- Parmar, Rekha
- Robins, Peter
- Leitch, Andrea
- Ali, Manir
- Black, Deborah N
- van Bokhoven, Hans
- Brunner, Han G
- Hamel, Ben C
- Corry, Peter C
- Cowan, Frances M
- Frints, Suzanne G
- Klepper, Joerg
- Livingston, John H
- Lynch, Sally Ann
- Massey, Roger F
- Meritet, Jean François
- Michaud, Jacques L
- Ponsot, Gerard
- Voit, Thomas
- Lebon, Pierre
- Bonthron, David T
- Jackson, Andrew P
- Barnes, Deborah E
- Lindahl, Tomas
Producer: 20060911
In:
Nature genetics vol. 38
Availability: No items available.
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Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium. [electronic resource] by
- de Brouwer, Arjan P M
- Yntema, Helger G
- Kleefstra, Tjitske
- Lugtenberg, Dorien
- Oudakker, Astrid R
- de Vries, Bert B A
- van Bokhoven, Hans
- Van Esch, Hilde
- Frints, Suzanne G M
- Froyen, Guy
- Fryns, Jean-Pierre
- Raynaud, Martine
- Moizard, Marie-Pierre
- Ronce, Nathalie
- Bensalem, Anissa
- Moraine, Claude
- Poirier, Karine
- Castelnau, Laetitia
- Saillour, Yoann
- Bienvenu, Thierry
- Beldjord, Chérif
- des Portes, Vincent
- Chelly, Jamel
- Turner, Gillian
- Fullston, Tod
- Gecz, Jozef
- Kuss, Andreas W
- Tzschach, Andreas
- Jensen, Lars Riff
- Lenzner, Steffen
- Kalscheuer, Vera M
- Ropers, Hans-Hilger
- Hamel, Ben C J
Producer: 20070228
In:
Human mutation vol. 28
Availability: No items available.
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