PUBLICATIONS of MMG

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Résultats : 4199  publications trouvées.

Gecz, J.  et al. 1993

Physical and transcriptional mapping of DXS56-PGK1 1 Mb region: identification of three new transcripts

Several new techniques for isolation expressed sequences have been recently described considerably speeding up the identification of unknown genes. Here we present a transcriptional map of the 1 Mb...
Hum. Mol. Genet. - issue: 9 - volume: 2 - pages: 1389-1396.


Delague, V.  et al. 1993

Charcot-Marie-Tooth Neuropathy Type 4H – ARCHIVED CHAPTER, FOR HISTORICAL REFERENCE ONLY

NOTE: THIS PUBLICATION IS ARCHIVED. IT IS FOR HISTORICAL REFERENCE ONLY, AND THE INFORMATION MAY BE OUT OF DATE. CLINICAL CHARACTERISTICS: Charcot-Marie-Tooth neuropathy type 4H (CMT4H) is a...
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Antonellis, A.  et al. 1993

GARS1-Associated Axonal Neuropathy

GARS1-associated axonal neuropathy (Charcot-Marie-Tooth neuropathy type 2D / distal spinal muscular atrophy V [CMT2D/dSMA-V]) is characterized by adolescent or early-adult onset of weakness in the...
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Nadeau G, .  et al. 0

Puechberty J

Tevissen H
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Ben Zeev B, .  et al. 0

Pineda M

Mari F
Ravn K - issue: Mejaaki Boanjak V - volume: Polg - pages: Djuric M.


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Eur J Hum Genet. 2000 Feb, .  et al. 0

Villard L

10.1038/sj.ejhg.5200432
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Rondinella D, .  et al. 0

De Filippis R

Chabrol B
- issue: Mari F - volume: Ariani F - pages: Pineda M.


Haymowicz M, .  et al. 0

Welborn R

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A., .  et al. 0

L.; Roussel

electroencephalography (EEG)
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Am J Med Genet. 2000 Mar 6, .  et al. 0

Villard L

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Font, .  et al. 0

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Fontés M, .  et al. 0

Colleaux L.;"Gene. 1999 Jul 22;235(1-2):43-50. doi: 10.1016/s0378-1119(99)00217-6.";Villard L;Gene;1999;23/07/1999;;;10.1016/s0378-1119(99)00217-6

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Katja, .  et al. 0

Maarten H.; Accogli

Coriene; Grasshoff
they have been reported with wide phenotypic variability. We report on six individuals with novel WDR62 mutations who illustrate this variability and describe three in greater detail. Of the three - issue: Niels; Morris-Rosendahl - volume: Deborah J.; Mancini - pages: Leontine; Verheijen.


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