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Isolated and unilateral facial angiofibromas revealing a type 1 segmental postzygotic mosaicism of tuberous sclerosis complex with c.4949_4982del TSC2 mutation

British journal of dermatology (1951), 2018-01, Vol.178 (1), p.e53-e54

2018

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Severe episodes of extra cellular dehydration: an atypical adult presentation of cystic fibrosis

Clinical nephrology, 2008-04, Vol.69 (4), p.302-305

2008

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Hyperechogenic fetal bowel: A large French collaborative study of 682 cases

American journal of medical genetics. Part A, 2003-09, Vol.121A (3), p.209-213

2003

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Prevalence of the tuberous sclerosis complex at patients taken care for a renal angiomyolipoma

Progrès en urologie (Paris), 2020-09, Vol.30 (10), p.500-506

2020

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A simplified method for determination of specific DNA or RNA copy number using quantitative PCR and an automatic DNA sequencer

BioTechniques, 1992-07, Vol.13 (1), p.106

1992

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Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France

Human mutation, 2000-08, Vol.16 (2), p.143-156

2000

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Isolated and unilateral facial angiofibromas revealing a type 1 segmental postzygotic mosaicism of tuberous sclerosis complex with c.4949_4982del TSC 2 mutation

British journal of dermatology (1951), 2018-01, Vol.178 (1)

2018

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Quantitative determination of the hybrid Bcr‐Abl RNA in patients with chronic myelogenous leukaemia under interferon therapy

British journal of haematology, 1992-12, Vol.82 (4), p.701-707

1992

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Predicting the risk of cystic fibrosis with abnormal ultrasound signs of fetal bowel: Results of a French molecular collaborative study based on 641 prospective cases

American journal of medical genetics, 2002-06, Vol.110 (2), p.109-115

2002

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Polymerase chain reaction detection of residual disease in chronic myeloid leukemia patients in complete cytogenetic remission under interferon with or without chemotherapy

Leukemia, 1992-11, Vol.6 (11), p.1232-1234

1992

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Molecular analysis of 53 fragile X families with the probe StB12.3

American journal of medical genetics, 1994-12, Vol.53 (4), p.370-373

1994

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Isolated and unilateral facial angiofibromas revealing a type 1 segmental postzygotic mosaicism of tuberous sclerosis complex with c.4949_4982del TSC2 mutation

The British journal of dermatology, 2018, Vol.178 (1), p.e53-e54

2018

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Les bases moléculaires de la mucoviscidose en France : plus de 300 mutations et 506 génotypes différents sont en cause

M.S. Médecine sciences, 1998, Vol.14 (12), p.1413

1998

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OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract

Journal of medical genetics, 2004, Vol.41 (9), p.e110-e110

2004

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Additive effects of clonidine and antidepressant drugs in the mouse forced-swimming test

Psychopharmacologia, 1988-01, Vol.96 (1), p.104-109

1988

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Clonidine as a sensitizing agent in the forced swimming test for revealing antidepressant activity

Journal of psychiatry & neuroscience, 1991-11, Vol.16 (4), p.199-203

1991

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Isolated and unilateral facial angiofibromas revealing a type 1 segmental postzygotic mosaicism of tuberous sclerosis complex with c.4949_4982del TSC2 mutation

Severe episodes of extra cellular dehydration: an atypical adult presentation of cystic fibrosis

Hyperechogenic fetal bowel: A large French collaborative study of 682 cases

Prevalence of the tuberous sclerosis complex at patients taken care for a renal angiomyolipoma

A simplified method for determination of specific DNA or RNA copy number using quantitative PCR and an automatic DNA sequencer

Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France

Isolated and unilateral facial angiofibromas revealing a type 1 segmental postzygotic mosaicism of tuberous sclerosis complex with c.4949_4982del TSC 2 mutation

Quantitative determination of the hybrid Bcr‐Abl RNA in patients with chronic myelogenous leukaemia under interferon therapy

Predicting the risk of cystic fibrosis with abnormal ultrasound signs of fetal bowel: Results of a French molecular collaborative study based on 641 prospective cases

Polymerase chain reaction detection of residual disease in chronic myeloid leukemia patients in complete cytogenetic remission under interferon with or without chemotherapy

Molecular analysis of 53 fragile X families with the probe StB12.3

Isolated and unilateral facial angiofibromas revealing a type 1 segmental postzygotic mosaicism of tuberous sclerosis complex with c.4949_4982del TSC2 mutation

Les bases moléculaires de la mucoviscidose en France : plus de 300 mutations et 506 génotypes différents sont en cause

OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract

Preclinical efficacy of azacitidine and venetoclax for infant KMT2A-rearranged acute lymphoblastic leukemia reveals a new therapeutic strategy

Building the Future Therapies for Down Syndrome: The Third International Conference of the T21 Research Society

Additive effects of clonidine and antidepressant drugs in the mouse forced-swimming test

Clonidine as a sensitizing agent in the forced swimming test for revealing antidepressant activity

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