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Sex related expressivity of the phenotype in coronal craniosynostosis caused by the recurrent P250R FGFR3 mutation

Journal of Medical Genetics, 1 January 1999, Vol.36(1), p.9 [Peer Reviewed Journal]

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Mitochondrial DNA inheritance in patients with deleted mtDNA

Journal of Medical Genetics, 1 September 2001, Vol.38(9), p.e28 [Peer Reviewed Journal]

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Detection of heterozygous SMN1 deletions in SMA families using a simple fluorescent multiplex PCR method

Journal of Medical Genetics, 1 April 2001, Vol.38(4), p.240 [Peer Reviewed Journal]

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GDNF as a candidate modifier in a type 1 neurofibromatosis (NF1) enteric phenotype

Journal of Medical Genetics, 1 September 2001, Vol.38(9), p.638 [Peer Reviewed Journal]

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MECP2 mutation in non-fatal, non-progressive encephalopathy in a male

Journal of Medical Genetics, 1 March 2001, Vol.38(3), p.171 [Peer Reviewed Journal]

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β 1 -adrenergic antagonists improve sleep and behavioural disturbances in a circadian disorder, Smith-Magenis syndrome

Journal of Medical Genetics, 1 September 2001, Vol.38(9), p.586 [Peer Reviewed Journal]

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B cell immunodeficiency, distal limb abnormalities, and urogenital malformations in a three generation family: a novel autosomal dominant syndrome?

Journal of Medical Genetics, 1 July 2001, Vol.38(7), p.488 [Peer Reviewed Journal]

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Trinucleotide repeat contraction: a pitfall in prenatal diagnosis of myotonic dystrophy

Journal of Medical Genetics, 1 December 2001, Vol.38(12), p.850 [Peer Reviewed Journal]

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Tricuspid atresia and conotruncal malformations in five families

Journal of Medical Genetics, 1 April 1999, Vol.36(4), p.349 [Peer Reviewed Journal]

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Epiphyseal, vertebral, and ear (EVE) dysplasia: a new syndrome?

Journal of Medical Genetics, 1 July 1999, Vol.36(7), p.561 [Peer Reviewed Journal]

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by this Author/Contributor:

  1. Munnich, A.
  2. Munnich, Arnold
  3. Munnich
  4. Lyonnet, Stanislas
  5. Cormier-Daire, Valérie

on this subject:

  1. Biology
  2. Medicine
  3. Humans
  4. Female
  5. Male

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