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1
Elements of a plan-based theory of speech acts
Elements of a plan-based theory of speech acts
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Elements of a plan-based theory of speech acts

Cohen, Philip R. ; Perrault, C. Raymond

Cognitive science, 1979, Vol.3 (3), p.177-212 [Periódico revisado por pares]

Norwood, NJ: Elsevier Inc

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2
Multiplex real-time PCR assays for the detection and identification of Heterobasidion species attacking conifers in Europe
Multiplex real-time PCR assays for the detection and identification of Heterobasidion species attacking conifers in Europe
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Multiplex real-time PCR assays for the detection and identification of Heterobasidion species attacking conifers in Europe

Ioos, R. ; Chrétien, P. ; Perrault, J. ; Jeandel, C. ; Dutech, C. ; Gonthier, P. ; Sillo, F. ; Hietala, Ari Mikko ; Solheim, Halvor ; Hubert, J.

2019-07

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3
Serendipity or prepared mind? Recollections of the KOP translocation (1967) and of one form of Perrault syndrome
Serendipity or prepared mind? Recollections of the KOP translocation (1967) and of one form of Perrault syndrome
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Serendipity or prepared mind? Recollections of the KOP translocation (1967) and of one form of Perrault syndrome

Opitz, John M.

American journal of medical genetics. Part C, Seminars in medical genetics, 2014-12, Vol.166C (4), p.387-396

United States: Blackwell Publishing Ltd

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4
Elements of a Plan‐Based Theory of Speech Acts
Elements of a Plan‐Based Theory of Speech Acts
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Elements of a Plan‐Based Theory of Speech Acts

Cohen, Philip R. ; Perrault, C. Raymond

Cognitive science, 1979-07, Vol.3 (3), p.177-212 [Periódico revisado por pares]

10 Industrial Avenue, Mahwah, NJ 07430‐2262, USA: Lawrence Erlbaum Associates, Inc

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5
Expanding the genotypic spectrum of Perrault syndrome
Expanding the genotypic spectrum of Perrault syndrome
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Expanding the genotypic spectrum of Perrault syndrome

Demain, L.A.M. ; Urquhart, J.E. ; O'Sullivan, J. ; Williams, S.G. ; Bhaskar, S.S. ; Jenkinson, E.M. ; Lourenco, C.M. ; Heiberg, A. ; Pearce, S.H. ; Shalev, S.A. ; Yue, W.W. ; Mackinnon, S. ; Munro, K.J. ; Newbury‐Ecob, R. ; Becker, K. ; Kim, M.J. ; O' Keefe, R.T. ; Newman, W.G.

Clinical genetics, 2017-02, Vol.91 (2), p.302-312 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

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6
An Application of NGS for Molecular Investigations in Perrault Syndrome: Study of 14 Families and Review of the Literature
An Application of NGS for Molecular Investigations in Perrault Syndrome: Study of 14 Families and Review of the Literature
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An Application of NGS for Molecular Investigations in Perrault Syndrome: Study of 14 Families and Review of the Literature

Lerat, Justine ; Jonard, Laurence ; Loundon, Natalie ; Christin-Maitre, Sophie ; Lacombe, Didier ; Goizet, Cyril ; Rouzier, Cécile ; Van Maldergem, Lionel ; Gherbi, Souad ; Garabedian, Eréa-Nöel ; Bonnefont, Jean- Paul ; Touraine, Philippe ; Mosnier, Isabelle ; Munnich, Arnold ; Denoyelle, Françoise ; Marlin, Sandrine

Human mutation, 2016-12, Vol.37 (12), p.1354-1362 [Periódico revisado por pares]

United States: Blackwell Publishing Ltd

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7
The expanding LARS2 phenotypic spectrum: HLASA, Perrault syndrome with leukodystrophy, and mitochondrial myopathy
The expanding LARS2 phenotypic spectrum: HLASA, Perrault syndrome with leukodystrophy, and mitochondrial myopathy
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The expanding LARS2 phenotypic spectrum: HLASA, Perrault syndrome with leukodystrophy, and mitochondrial myopathy

Riley, Lisa G. ; Rudinger‐Thirion, Joëlle ; Frugier, Magali ; Wilson, Meredith ; Luig, Melissa ; Alahakoon, Thushari Indika ; Nixon, Cheng Yee ; Kirk, Edwin P. ; Roscioli, Tony ; Lunke, Sebastian ; Stark, Zornitza ; Wierenga, Klaas J. ; Palle, Sirish ; Walsh, Maie ; Higgs, Emily ; Arbuckle, Susan ; Thirukeswaran, Shalini ; Compton, Alison G. ; Thorburn, David R. ; Christodoulou, John

Human mutation, 2020-08, Vol.41 (8), p.1425-1434 [Periódico revisado por pares]

United States: Hindawi Limited

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8
A novel mutation of Twinkle in Perrault syndrome: A not rare diagnosis?
A novel mutation of Twinkle in Perrault syndrome: A not rare diagnosis?
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A novel mutation of Twinkle in Perrault syndrome: A not rare diagnosis?

Gotta, Fabio ; Lamp, Merit ; Geroldi, Alessandro ; Trevisan, Lucia ; Origone, Paola ; Fugazza, Giuseppina ; Fabbri, Sabrina ; Nesti, Claudia ; Rubegni, Anna ; Morani, Federica ; Santorelli, Filippo Maria ; Bellone, Emilia ; Mandich, Paola

Annals of human genetics, 2020-09, Vol.84 (5), p.417-422 [Periódico revisado por pares]

England: Wiley Subscription Services, Inc

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9
A known pathogenic variant in the essential mitochondrial translation gene RMND1 causes a Perrault‐like syndrome with renal defects
A known pathogenic variant in the essential mitochondrial translation gene RMND1 causes a Perrault‐like syndrome with renal defects
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A known pathogenic variant in the essential mitochondrial translation gene RMND1 causes a Perrault‐like syndrome with renal defects

Demain, L.A.M. ; Antunes, D. ; O'Sullivan, J. ; Bhaskhar, S.S. ; O'Keefe, R.T. ; Newman, W.G.

Clinical genetics, 2018-08, Vol.94 (2), p.276-277 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

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10
Biallelic mutations in LARS2 can cause Perrault syndrome type 2 with neurologic symptoms
Biallelic mutations in LARS2 can cause Perrault syndrome type 2 with neurologic symptoms
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Biallelic mutations in LARS2 can cause Perrault syndrome type 2 with neurologic symptoms

Kosaki, Rika ; Horikawa, Reiko ; Fujii, Eriko ; Kosaki, Kenjiro

American journal of medical genetics. Part A, 2018-02, Vol.176 (2), p.404-408 [Periódico revisado por pares]

United States: Wiley Subscription Services, Inc

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