共 6 条
[1]
Goussot Raphaelle, 2017, JAAD Case Rep, V3, P143, DOI 10.1016/j.jdcr.2017.01.002
[2]
Poikiloderma, tendon contracture and pulmonary fibrosis: a new autosomal dominant syndrome?
[J].
Khumalo, N. P.
;
Pillay, K.
;
Beighton, P.
;
Wainwright, H.
;
Walker, B.
;
Saxe, N.
;
Mayosi, B. M.
;
Bateman, E. D.
.
BRITISH JOURNAL OF DERMATOLOGY,
2006, 155 (05)
:1057-1061

Khumalo, N. P.
论文数: 0 引用数: 0
h-index: 0
机构:
Groote Schuur Hosp, Div Dermatol, Dept Med, ZA-7925 Cape Town, South Africa Groote Schuur Hosp, Div Dermatol, Dept Med, ZA-7925 Cape Town, South Africa

Pillay, K.
论文数: 0 引用数: 0
h-index: 0
机构: Groote Schuur Hosp, Div Dermatol, Dept Med, ZA-7925 Cape Town, South Africa

Beighton, P.
论文数: 0 引用数: 0
h-index: 0
机构: Groote Schuur Hosp, Div Dermatol, Dept Med, ZA-7925 Cape Town, South Africa

Wainwright, H.
论文数: 0 引用数: 0
h-index: 0
机构: Groote Schuur Hosp, Div Dermatol, Dept Med, ZA-7925 Cape Town, South Africa

Walker, B.
论文数: 0 引用数: 0
h-index: 0
机构: Groote Schuur Hosp, Div Dermatol, Dept Med, ZA-7925 Cape Town, South Africa

Saxe, N.
论文数: 0 引用数: 0
h-index: 0
机构: Groote Schuur Hosp, Div Dermatol, Dept Med, ZA-7925 Cape Town, South Africa

Mayosi, B. M.
论文数: 0 引用数: 0
h-index: 0
机构: Groote Schuur Hosp, Div Dermatol, Dept Med, ZA-7925 Cape Town, South Africa

Bateman, E. D.
论文数: 0 引用数: 0
h-index: 0
机构: Groote Schuur Hosp, Div Dermatol, Dept Med, ZA-7925 Cape Town, South Africa
[3]
Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations
[J].
Mercier, Sandra
;
Kuery, Sebastien
;
Salort-Campana, Emmanuelle
;
Magot, Armelle
;
Agbim, Uchenna
;
Besnard, Thomas
;
Bodak, Nathalie
;
Bou-Hanna, Chantal
;
Breheret, Flora
;
Brunelle, Perrine
;
Caillon, Florence
;
Chabrol, Brigitte
;
Cormier-Daire, Valerie
;
David, Albert
;
Eymard, Bruno
;
Faivre, Laurence
;
Figarella-Branger, Dominique
;
Fleurence, Emmanuelle
;
Ganapathi, Mythily
;
Gherardi, Romain
;
Goldenberg, Alice
;
Hamel, Antoine
;
Igual, Jeanine
;
Irvine, Alan D.
;
Israel-Biet, Dominique
;
Kannengiesser, Caroline
;
Laboisse, Christian
;
Le Caignec, Cedric
;
Mahe, Jean-Yves
;
Mallet, Stephanie
;
MacGowan, Stuart
;
McAleer, Maeve A.
;
McLean, Irwin
;
Meni, Cecile
;
Munnich, Arnold
;
Mussini, Jean-Marie
;
Nagy, Peter L.
;
Odel, Jeffrey
;
O'Regan, Grainne M.
;
Pereon, Yann
;
Perrier, Julie
;
Piard, Juliette
;
Puzenat, Eve
;
Sampson, Jacinda B.
;
Smith, Frances
;
Soufir, Nadem
;
Tanji, Kurenai
;
Thauvin, Christel
;
Ulane, Christina
;
Watson, Rosemarie M.
.
ORPHANET JOURNAL OF RARE DISEASES,
2015, 10

Mercier, Sandra
论文数: 0 引用数: 0
h-index: 0
机构:
CHU Nantes, Ctr Reference Anomalies Dev & Syndromes Malformat, Unite Genet Clin, Serv Genet Med, F-44093 Nantes 1, France
Univ Nantes, Atlantic Gene Therapy Inst, INSERM, UMR1089, Nantes, France
Ctr Reference Malad Neuromusculaires Rares Enfant, F-44000 Nantes, France CHU Nantes, Ctr Reference Anomalies Dev & Syndromes Malformat, Unite Genet Clin, Serv Genet Med, F-44093 Nantes 1, France

Kuery, Sebastien
论文数: 0 引用数: 0
h-index: 0
机构:
CHU Nantes, Serv Genet Med, Unite Genet Mol, F-44093 Nantes 1, France CHU Nantes, Ctr Reference Anomalies Dev & Syndromes Malformat, Unite Genet Clin, Serv Genet Med, F-44093 Nantes 1, France

Salort-Campana, Emmanuelle
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Enfants La Timone, Ctr Reference Malad Neuromusculaires & Sclerose L, Serv Neurol, Marseille, France CHU Nantes, Ctr Reference Anomalies Dev & Syndromes Malformat, Unite Genet Clin, Serv Genet Med, F-44093 Nantes 1, France

Magot, Armelle
论文数: 0 引用数: 0
h-index: 0
机构:
Ctr Reference Malad Neuromusculaires Rares Enfant, F-44000 Nantes, France
CHU Nantes, Lab Explorat Fonct, F-44000 Nantes, France CHU Nantes, Ctr Reference Anomalies Dev & Syndromes Malformat, Unite Genet Clin, Serv Genet Med, F-44093 Nantes 1, France

Agbim, Uchenna
论文数: 0 引用数: 0
h-index: 0
机构:
Columbia Univ, Med Ctr, Dept Med, New York, NY USA CHU Nantes, Ctr Reference Anomalies Dev & Syndromes Malformat, Unite Genet Clin, Serv Genet Med, F-44093 Nantes 1, France

Besnard, Thomas
论文数: 0 引用数: 0
h-index: 0
机构:
CHU Nantes, Serv Genet Med, Unite Genet Mol, F-44093 Nantes 1, France CHU Nantes, Ctr Reference Anomalies Dev & Syndromes Malformat, Unite Genet Clin, Serv Genet Med, F-44093 Nantes 1, France

Bodak, Nathalie
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Necker Enfants Malad, AP HP, Serv Dermatol, Paris, France CHU Nantes, Ctr Reference Anomalies Dev & Syndromes Malformat, Unite Genet Clin, Serv Genet Med, F-44093 Nantes 1, France

Bou-Hanna, Chantal
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Nantes, Equipe Accueil Biometadys, Nantes, France CHU Nantes, Ctr Reference Anomalies Dev & Syndromes Malformat, Unite Genet Clin, Serv Genet Med, F-44093 Nantes 1, France

Breheret, Flora
论文数: 0 引用数: 0
h-index: 0
机构:
CHU Nantes, Serv Genet Med, Unite Genet Mol, F-44093 Nantes 1, France CHU Nantes, Ctr Reference Anomalies Dev & Syndromes Malformat, Unite Genet Clin, Serv Genet Med, F-44093 Nantes 1, France

Brunelle, Perrine
论文数: 0 引用数: 0
h-index: 0
机构:
CHU Nantes, Serv Genet Med, Unite Genet Mol, F-44093 Nantes 1, France CHU Nantes, Ctr Reference Anomalies Dev & Syndromes Malformat, Unite Genet Clin, Serv Genet Med, F-44093 Nantes 1, France

Caillon, Florence
论文数: 0 引用数: 0
h-index: 0
机构:
CHU Nantes, Serv Radiol, F-44000 Nantes, France CHU Nantes, Ctr Reference Anomalies Dev & Syndromes Malformat, Unite Genet Clin, Serv Genet Med, F-44093 Nantes 1, France

Chabrol, Brigitte
论文数: 0 引用数: 0
h-index: 0
机构:
Aix Marseille Univ, Hop Enfants La Timone, Serv Neuropediat, Marseille, France CHU Nantes, Ctr Reference Anomalies Dev & Syndromes Malformat, Unite Genet Clin, Serv Genet Med, F-44093 Nantes 1, France

Cormier-Daire, Valerie
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Necker Enfants Malad, AP HP, Paris Descartes Sorbonne Paris Cite, U781,Fdn Imagine,Serv Genet, F-75015 Paris, France CHU Nantes, Ctr Reference Anomalies Dev & Syndromes Malformat, Unite Genet Clin, Serv Genet Med, F-44093 Nantes 1, France

David, Albert
论文数: 0 引用数: 0
h-index: 0
机构:
CHU Nantes, Ctr Reference Anomalies Dev & Syndromes Malformat, Unite Genet Clin, Serv Genet Med, F-44093 Nantes 1, France CHU Nantes, Ctr Reference Anomalies Dev & Syndromes Malformat, Unite Genet Clin, Serv Genet Med, F-44093 Nantes 1, France

Eymard, Bruno
论文数: 0 引用数: 0
h-index: 0
机构:
GHU La Pitie Salpetriere, AP HP, Inst Myol, Ctr Reference Pathol Neuromusculaire Paris Est, Paris, France CHU Nantes, Ctr Reference Anomalies Dev & Syndromes Malformat, Unite Genet Clin, Serv Genet Med, F-44093 Nantes 1, France

Faivre, Laurence
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Bourgogne, IFR Sante STIC, Equipe Accueil EA GAD Genet Anomalies Dev 4271, Dijon, France
CHU, Ctr Reference Anomalies Dev & Syndromes Malformat, Hop Enfants, Dijon, France
CHU, Ctr Genet, Hop Enfants, Dijon, France CHU Nantes, Ctr Reference Anomalies Dev & Syndromes Malformat, Unite Genet Clin, Serv Genet Med, F-44093 Nantes 1, France

Figarella-Branger, Dominique
论文数: 0 引用数: 0
h-index: 0
机构:
CHU Timone, Fac Med, Neuropathol Lab, Marseille, France CHU Nantes, Ctr Reference Anomalies Dev & Syndromes Malformat, Unite Genet Clin, Serv Genet Med, F-44093 Nantes 1, France

Fleurence, Emmanuelle
论文数: 0 引用数: 0
h-index: 0
机构:
Ctr Reference Malad Neuromusculaires Rares Enfant, F-44000 Nantes, France
Etab Sante Enfants & Adolescents Reg Nantaise, Nantes, France CHU Nantes, Ctr Reference Anomalies Dev & Syndromes Malformat, Unite Genet Clin, Serv Genet Med, F-44093 Nantes 1, France

论文数: 引用数:
h-index:
机构:

Gherardi, Romain
论文数: 0 引用数: 0
h-index: 0
机构:
CHU Henri Mondor, APHP, Serv Histol, INSERM,U841, F-94010 Creteil, France CHU Nantes, Ctr Reference Anomalies Dev & Syndromes Malformat, Unite Genet Clin, Serv Genet Med, F-44093 Nantes 1, France

Goldenberg, Alice
论文数: 0 引用数: 0
h-index: 0
机构:
CHU Rouen, Hop Charles Nicolles, Serv Genet, Rouen, France CHU Nantes, Ctr Reference Anomalies Dev & Syndromes Malformat, Unite Genet Clin, Serv Genet Med, F-44093 Nantes 1, France

Hamel, Antoine
论文数: 0 引用数: 0
h-index: 0
机构:
CHU Nantes, Serv Chirurg Infantile, F-44035 Nantes 01, France CHU Nantes, Ctr Reference Anomalies Dev & Syndromes Malformat, Unite Genet Clin, Serv Genet Med, F-44093 Nantes 1, France

Igual, Jeanine
论文数: 0 引用数: 0
h-index: 0
机构:
CH Marne Vallee, Serv Pneumol, Jossigny, France CHU Nantes, Ctr Reference Anomalies Dev & Syndromes Malformat, Unite Genet Clin, Serv Genet Med, F-44093 Nantes 1, France

Irvine, Alan D.
论文数: 0 引用数: 0
h-index: 0
机构:
Our Ladys Childrens Hosp Crumlin, Dept Paediat Dermatol, Dublin, Ireland
Our Ladys Childrens Hosp, Natl Childrens Res Ctr, Dublin, Ireland
Trinity Coll Dublin, Med Clin, Dublin, Ireland CHU Nantes, Ctr Reference Anomalies Dev & Syndromes Malformat, Unite Genet Clin, Serv Genet Med, F-44093 Nantes 1, France

Israel-Biet, Dominique
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Europeen Georges Pompidou, AP HP, Serv Pneumol, Paris, France CHU Nantes, Ctr Reference Anomalies Dev & Syndromes Malformat, Unite Genet Clin, Serv Genet Med, F-44093 Nantes 1, France

Kannengiesser, Caroline
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Bichat Claude Bernard, AP HP, Serv Genet, F-75877 Paris, France CHU Nantes, Ctr Reference Anomalies Dev & Syndromes Malformat, Unite Genet Clin, Serv Genet Med, F-44093 Nantes 1, France

Laboisse, Christian
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Nantes, Equipe Accueil Biometadys, Nantes, France
Univ Nantes, Fac Med, Lab Anatomopathol A, F-44035 Nantes, France CHU Nantes, Ctr Reference Anomalies Dev & Syndromes Malformat, Unite Genet Clin, Serv Genet Med, F-44093 Nantes 1, France

Le Caignec, Cedric
论文数: 0 引用数: 0
h-index: 0
机构:
CHU Nantes, Serv Genet Med, Unite Cytogenet, F-44093 Nantes 1, France CHU Nantes, Ctr Reference Anomalies Dev & Syndromes Malformat, Unite Genet Clin, Serv Genet Med, F-44093 Nantes 1, France

Mahe, Jean-Yves
论文数: 0 引用数: 0
h-index: 0
机构:
Ctr Reference Malad Neuromusculaires Rares Enfant, F-44000 Nantes, France
Etab Sante Enfants & Adolescents Reg Nantaise, Nantes, France CHU Nantes, Ctr Reference Anomalies Dev & Syndromes Malformat, Unite Genet Clin, Serv Genet Med, F-44093 Nantes 1, France

Mallet, Stephanie
论文数: 0 引用数: 0
h-index: 0
机构:
Aix Marseille Univ, Hop Enfants La Timone, Serv Dermatol, Provence, France CHU Nantes, Ctr Reference Anomalies Dev & Syndromes Malformat, Unite Genet Clin, Serv Genet Med, F-44093 Nantes 1, France

MacGowan, Stuart
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Dundee, Coll Life Sci, Ctr Dermatol & Genet Med, Dundee, Scotland
Univ Dundee, Coll Med Dent & Nursing, Ctr Dermatol & Genet Med, Dundee, Scotland
Univ Dundee, Coll Life Sci, Div Computat Biol, Dundee, Scotland CHU Nantes, Ctr Reference Anomalies Dev & Syndromes Malformat, Unite Genet Clin, Serv Genet Med, F-44093 Nantes 1, France

McAleer, Maeve A.
论文数: 0 引用数: 0
h-index: 0
机构:
Our Ladys Childrens Hosp Crumlin, Dept Paediat Dermatol, Dublin, Ireland
Our Ladys Childrens Hosp, Natl Childrens Res Ctr, Dublin, Ireland CHU Nantes, Ctr Reference Anomalies Dev & Syndromes Malformat, Unite Genet Clin, Serv Genet Med, F-44093 Nantes 1, France

McLean, Irwin
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Dundee, Coll Life Sci, Ctr Dermatol & Genet Med, Dundee, Scotland
Univ Dundee, Coll Med Dent & Nursing, Ctr Dermatol & Genet Med, Dundee, Scotland CHU Nantes, Ctr Reference Anomalies Dev & Syndromes Malformat, Unite Genet Clin, Serv Genet Med, F-44093 Nantes 1, France

Meni, Cecile
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Necker Enfants Malad, AP HP, Serv Dermatol, Paris, France CHU Nantes, Ctr Reference Anomalies Dev & Syndromes Malformat, Unite Genet Clin, Serv Genet Med, F-44093 Nantes 1, France

Munnich, Arnold
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Necker Enfants Malad, AP HP, Paris Descartes Sorbonne Paris Cite, U781,Fdn Imagine,Serv Genet, F-75015 Paris, France CHU Nantes, Ctr Reference Anomalies Dev & Syndromes Malformat, Unite Genet Clin, Serv Genet Med, F-44093 Nantes 1, France

Mussini, Jean-Marie
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Nantes, Fac Med, Lab Anatomopathol A, F-44035 Nantes, France CHU Nantes, Ctr Reference Anomalies Dev & Syndromes Malformat, Unite Genet Clin, Serv Genet Med, F-44093 Nantes 1, France

Nagy, Peter L.
论文数: 0 引用数: 0
h-index: 0
机构:
Columbia Univ, Med Ctr, Dept Pathol & Cell Biol, Personalized Genom Med, New York, NY USA CHU Nantes, Ctr Reference Anomalies Dev & Syndromes Malformat, Unite Genet Clin, Serv Genet Med, F-44093 Nantes 1, France

Odel, Jeffrey
论文数: 0 引用数: 0
h-index: 0
机构:
Columbia Univ, Dept Ophthalmol, Med Ctr, New York, NY 10027 USA CHU Nantes, Ctr Reference Anomalies Dev & Syndromes Malformat, Unite Genet Clin, Serv Genet Med, F-44093 Nantes 1, France

O'Regan, Grainne M.
论文数: 0 引用数: 0
h-index: 0
机构:
Our Ladys Childrens Hosp Crumlin, Dept Paediat Dermatol, Dublin, Ireland CHU Nantes, Ctr Reference Anomalies Dev & Syndromes Malformat, Unite Genet Clin, Serv Genet Med, F-44093 Nantes 1, France

Pereon, Yann
论文数: 0 引用数: 0
h-index: 0
机构:
Ctr Reference Malad Neuromusculaires Rares Enfant, F-44000 Nantes, France
CHU Nantes, Lab Explorat Fonct, F-44000 Nantes, France CHU Nantes, Ctr Reference Anomalies Dev & Syndromes Malformat, Unite Genet Clin, Serv Genet Med, F-44093 Nantes 1, France

Perrier, Julie
论文数: 0 引用数: 0
h-index: 0
机构:
Ctr Reference Malad Neuromusculaires Rares Enfant, F-44000 Nantes, France CHU Nantes, Ctr Reference Anomalies Dev & Syndromes Malformat, Unite Genet Clin, Serv Genet Med, F-44093 Nantes 1, France

Piard, Juliette
论文数: 0 引用数: 0
h-index: 0
机构:
CHU Besancon, Serv Genet Med, F-25030 Besancon, France CHU Nantes, Ctr Reference Anomalies Dev & Syndromes Malformat, Unite Genet Clin, Serv Genet Med, F-44093 Nantes 1, France

Puzenat, Eve
论文数: 0 引用数: 0
h-index: 0
机构:
CHU Besancon, Serv Dermatol, F-25030 Besancon, France CHU Nantes, Ctr Reference Anomalies Dev & Syndromes Malformat, Unite Genet Clin, Serv Genet Med, F-44093 Nantes 1, France

Sampson, Jacinda B.
论文数: 0 引用数: 0
h-index: 0
机构:
Columbia Univ, Dept Neurol, Med Ctr, New York, NY USA CHU Nantes, Ctr Reference Anomalies Dev & Syndromes Malformat, Unite Genet Clin, Serv Genet Med, F-44093 Nantes 1, France

Smith, Frances
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Dundee, Dermatol & Genet Med, Dundee, Scotland CHU Nantes, Ctr Reference Anomalies Dev & Syndromes Malformat, Unite Genet Clin, Serv Genet Med, F-44093 Nantes 1, France

Soufir, Nadem
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Bichat Claude Bernard, AP HP, Serv Genet, INSERM,U976, F-75877 Paris, France CHU Nantes, Ctr Reference Anomalies Dev & Syndromes Malformat, Unite Genet Clin, Serv Genet Med, F-44093 Nantes 1, France

Tanji, Kurenai
论文数: 0 引用数: 0
h-index: 0
机构:
Columbia Univ, Med Ctr, Div Neuropathol, New York, NY USA CHU Nantes, Ctr Reference Anomalies Dev & Syndromes Malformat, Unite Genet Clin, Serv Genet Med, F-44093 Nantes 1, France

Thauvin, Christel
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Bourgogne, IFR Sante STIC, Equipe Accueil EA GAD Genet Anomalies Dev 4271, Dijon, France
CHU, Ctr Reference Anomalies Dev & Syndromes Malformat, Hop Enfants, Dijon, France
CHU, Ctr Genet, Hop Enfants, Dijon, France CHU Nantes, Ctr Reference Anomalies Dev & Syndromes Malformat, Unite Genet Clin, Serv Genet Med, F-44093 Nantes 1, France

Ulane, Christina
论文数: 0 引用数: 0
h-index: 0
机构:
Columbia Univ, Dept Neurol, Med Ctr, New York, NY USA CHU Nantes, Ctr Reference Anomalies Dev & Syndromes Malformat, Unite Genet Clin, Serv Genet Med, F-44093 Nantes 1, France

Watson, Rosemarie M.
论文数: 0 引用数: 0
h-index: 0
机构:
Our Ladys Childrens Hosp Crumlin, Dept Paediat Dermatol, Dublin, Ireland CHU Nantes, Ctr Reference Anomalies Dev & Syndromes Malformat, Unite Genet Clin, Serv Genet Med, F-44093 Nantes 1, France
[4]
Mutations in FAM111B Cause Hereditary Fibrosing Poikiloderma with Tendon Contracture, Myopathy, and Pulmonary Fibrosis
[J].
Mercier, Sandra
;
Kuery, Sebastien
;
Shaboodien, Gasnat
;
Houniet, Darren T.
;
Khumalo, Nonhlanhla P.
;
Bou-Hanna, Chantal
;
Bodak, Nathalie
;
Cormier-Daire, Valerie
;
David, Albert
;
Faivre, Laurence
;
Figarella-Branger, Dominique
;
Gherardi, Romain K.
;
Glen, Elise
;
Hamel, Antoine
;
Laboisse, Christian
;
Le Caignec, Cedric
;
Lindenbaum, Pierre
;
Magot, Armelle
;
Munnich, Arnold
;
Mussini, Jean-Marie
;
Pillay, Komala
;
Rahman, Thahira
;
Redon, Richard
;
Salort-Campana, Emmanuelle
;
Santibanez-Koref, Mauro
;
Thauvin, Christel
;
Barbarot, Sebastien
;
Keavney, Bernard
;
Bezieau, Stephane
;
Mayosi, Bongani M.
.
AMERICAN JOURNAL OF HUMAN GENETICS,
2013, 93 (06)
:1100-1107

Mercier, Sandra
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Nantes, Unite Genet Clin, Serv Genet Med, Ctr Reference Anomalies Dev Syndromes Malformatif, F-44093 Nantes, France
Univ Nantes, Inst Natl Sante Res Med, UMR 1089, Atlantic Gene Therapy Inst, F-44007 Nantes, France Univ Nantes, Unite Genet Clin, Serv Genet Med, Ctr Reference Anomalies Dev Syndromes Malformatif, F-44093 Nantes, France

Kuery, Sebastien
论文数: 0 引用数: 0
h-index: 0
机构:
Ctr Hosp Univ Nantes, SErv Genet Med, 9 Quai Moncousu, F-44093 Nantes, France Univ Nantes, Unite Genet Clin, Serv Genet Med, Ctr Reference Anomalies Dev Syndromes Malformatif, F-44093 Nantes, France

Shaboodien, Gasnat
论文数: 0 引用数: 0
h-index: 0
机构:
Groote Schuur Hosp, Cardiovascular Genet Lab, Hatter Inst Cardiovascular Res Africa, Dept Med, ZA-7925 Cape Town, South Africa
Univ Cape Town, Dept Med, Cardiovascular Genet Lab, Hatter Inst Cardiovascular Res Africa, ZA-7925 Cape Town, South Africa Univ Nantes, Unite Genet Clin, Serv Genet Med, Ctr Reference Anomalies Dev Syndromes Malformatif, F-44093 Nantes, France

Houniet, Darren T.
论文数: 0 引用数: 0
h-index: 0
机构:
Newcastle Univ, Inst Med Genet, Fac Med Sci, Newcastle Upon Tyne NE3 4DS, Tyne & Wear, England Univ Nantes, Unite Genet Clin, Serv Genet Med, Ctr Reference Anomalies Dev Syndromes Malformatif, F-44093 Nantes, France

Khumalo, Nonhlanhla P.
论文数: 0 引用数: 0
h-index: 0
机构:
Groote Schuur Hosp, Div Dermatol, Dept Med, ZA-7925 Cape Town, South Africa
Univ Cape Town, Dept Med, Div Dermatol, ZA-7925 Cape Town, South Africa Univ Nantes, Unite Genet Clin, Serv Genet Med, Ctr Reference Anomalies Dev Syndromes Malformatif, F-44093 Nantes, France

Bou-Hanna, Chantal
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Nantes, Equipe Accuel Biometadys 4273, Fac Med, F-44035 Nantes, France Univ Nantes, Unite Genet Clin, Serv Genet Med, Ctr Reference Anomalies Dev Syndromes Malformatif, F-44093 Nantes, France

Bodak, Nathalie
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Necker Enfants Malad, Serv Dermatol, Assistance Publ Hopitaux Paris, F-75015 Paris, France Univ Nantes, Unite Genet Clin, Serv Genet Med, Ctr Reference Anomalies Dev Syndromes Malformatif, F-44093 Nantes, France

Cormier-Daire, Valerie
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Paris 04, Inst Nat Sante Rech Med U781,Assistance Publ Hop, Serv Genet, Fdn Imagine,Hop Necker Enfants Malades, F-75015 Paris, France Univ Nantes, Unite Genet Clin, Serv Genet Med, Ctr Reference Anomalies Dev Syndromes Malformatif, F-44093 Nantes, France

David, Albert
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Nantes, Unite Genet Clin, Serv Genet Med, Ctr Reference Anomalies Dev Syndromes Malformatif, F-44093 Nantes, France Univ Nantes, Unite Genet Clin, Serv Genet Med, Ctr Reference Anomalies Dev Syndromes Malformatif, F-44093 Nantes, France

Faivre, Laurence
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Univ Bourgogne, Equipe Accueil Genet Anomalies Dev 4271, Inst Federatif Rech Sante Sci Techn Informat Comm, F-21078 Dijon, France
Ctr Hosp Univ, Ctr Reference Anomalies Dev & Syndromes Malformat, F-21079 Dijon, France
Ctr Hosp Univ, Ctr Reference Anomalies Dev & Syndromes Malformat, Ctr Genet Hop Enfants, F-21079 Dijon, France Univ Nantes, Unite Genet Clin, Serv Genet Med, Ctr Reference Anomalies Dev Syndromes Malformatif, F-44093 Nantes, France

Figarella-Branger, Dominique
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Hop Enfants La Timone, Serv Anatomorpatholog & Neuropathol, F-13000 Marseille, France Univ Nantes, Unite Genet Clin, Serv Genet Med, Ctr Reference Anomalies Dev Syndromes Malformatif, F-44093 Nantes, France

Gherardi, Romain K.
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Hop Henri Mondor, Serv Anatomopathol, F-94010 Creteil, France Univ Nantes, Unite Genet Clin, Serv Genet Med, Ctr Reference Anomalies Dev Syndromes Malformatif, F-44093 Nantes, France

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Hamel, Antoine
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Ctr Hosp Univ Nantes, Serv Chirurg Infantile, F-44093 Nantes 1, France Univ Nantes, Unite Genet Clin, Serv Genet Med, Ctr Reference Anomalies Dev Syndromes Malformatif, F-44093 Nantes, France

Laboisse, Christian
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Univ Nantes, Equipe Accuel Biometadys 4273, Fac Med, F-44035 Nantes, France
Ctr Hosp Univ Nantes, Lab Anatomopathol A, F-44093 Nantes, France Univ Nantes, Unite Genet Clin, Serv Genet Med, Ctr Reference Anomalies Dev Syndromes Malformatif, F-44093 Nantes, France

Le Caignec, Cedric
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Ctr Hosp Univ Nantes, SErv Genet Med, 9 Quai Moncousu, F-44093 Nantes, France Univ Nantes, Unite Genet Clin, Serv Genet Med, Ctr Reference Anomalies Dev Syndromes Malformatif, F-44093 Nantes, France

Lindenbaum, Pierre
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Univ Nantes, Inst Natl Sante Rech Med UMR 1087, Ctr Natl Rech Sci UMR 6291, F-44007 Nantes, France
Ctr Hosp Univ Nantes, Inst Thorax, F-44007 Nantes, France Univ Nantes, Unite Genet Clin, Serv Genet Med, Ctr Reference Anomalies Dev Syndromes Malformatif, F-44093 Nantes, France

Magot, Armelle
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Univ Nantes, Serv Explorat Fonctionneles, Ctr Reference Maladies Neuromusculaires, Ctr Hosp, F-44093 Nantes, France Univ Nantes, Unite Genet Clin, Serv Genet Med, Ctr Reference Anomalies Dev Syndromes Malformatif, F-44093 Nantes, France

Munnich, Arnold
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Univ Paris 04, Inst Nat Sante Rech Med U781,Assistance Publ Hop, Serv Genet, Fdn Imagine,Hop Necker Enfants Malades, F-75015 Paris, France Univ Nantes, Unite Genet Clin, Serv Genet Med, Ctr Reference Anomalies Dev Syndromes Malformatif, F-44093 Nantes, France

Mussini, Jean-Marie
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Rahman, Thahira
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Newcastle Univ, Inst Med Genet, Fac Med Sci, Newcastle Upon Tyne NE3 4DS, Tyne & Wear, England Univ Nantes, Unite Genet Clin, Serv Genet Med, Ctr Reference Anomalies Dev Syndromes Malformatif, F-44093 Nantes, France

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Salort-Campana, Emmanuelle
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Hop Enfants La Timone, Serv neurol, Ctr Reference maladies neuromuscularies Sclerose, F-13000 Marseille, France Univ Nantes, Unite Genet Clin, Serv Genet Med, Ctr Reference Anomalies Dev Syndromes Malformatif, F-44093 Nantes, France

Santibanez-Koref, Mauro
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h-index: 0
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Newcastle Univ, Inst Med Genet, Fac Med Sci, Newcastle Upon Tyne NE3 4DS, Tyne & Wear, England Univ Nantes, Unite Genet Clin, Serv Genet Med, Ctr Reference Anomalies Dev Syndromes Malformatif, F-44093 Nantes, France

Thauvin, Christel
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Univ Bourgogne, Equipe Accueil Genet Anomalies Dev 4271, Inst Federatif Rech Sante Sci Techn Informat Comm, F-21078 Dijon, France Univ Nantes, Unite Genet Clin, Serv Genet Med, Ctr Reference Anomalies Dev Syndromes Malformatif, F-44093 Nantes, France

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Keavney, Bernard
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Newcastle Univ, Inst Med Genet, Fac Med Sci, Newcastle Upon Tyne NE3 4DS, Tyne & Wear, England
Univ Manchester, Inst Cardiovascular Sci, Core Technol Fac, Manchester M13 9NT, England Univ Nantes, Unite Genet Clin, Serv Genet Med, Ctr Reference Anomalies Dev Syndromes Malformatif, F-44093 Nantes, France

Bezieau, Stephane
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Ctr Hosp Univ Nantes, SErv Genet Med, 9 Quai Moncousu, F-44093 Nantes, France
Univ Nantes, Equipe Accuel Biometadys 4273, Fac Med, F-44035 Nantes, France Univ Nantes, Unite Genet Clin, Serv Genet Med, Ctr Reference Anomalies Dev Syndromes Malformatif, F-44093 Nantes, France

Mayosi, Bongani M.
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机构:
Groote Schuur Hosp, Cardiovascular Genet Lab, Hatter Inst Cardiovascular Res Africa, Dept Med, ZA-7925 Cape Town, South Africa
Univ Cape Town, Dept Med, Cardiovascular Genet Lab, Hatter Inst Cardiovascular Res Africa, ZA-7925 Cape Town, South Africa Univ Nantes, Unite Genet Clin, Serv Genet Med, Ctr Reference Anomalies Dev Syndromes Malformatif, F-44093 Nantes, France
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Takeichi, T.
;
Nanda, A.
;
Yang, H. -S.
;
Hsu, C. -K.
;
Lee, J. Y. -Y.
;
Al-Ajmi, H.
;
Akiyama, M.
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Simpson, M. A.
;
McGrath, J. A.
.
BRITISH JOURNAL OF DERMATOLOGY,
2017, 176 (02)
:534-536

Takeichi, T.
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机构:
Kings Coll London, Guys Hosp, St Johns Inst Dermatol, London, England
Kings Coll London, Guys Hosp, Dept Genet & Mol Med, London, England Kings Coll London, Guys Hosp, St Johns Inst Dermatol, London, England

Nanda, A.
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机构:
Nagoya Univ, Grad Sch Med, Dept Dermatol, Nagoya, Aichi, Japan Kings Coll London, Guys Hosp, St Johns Inst Dermatol, London, England

Yang, H. -S.
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机构:
Al Sabah Hosp, Asad Al Hamad Dermatol Ctr, Kuwait, Kuwait Kings Coll London, Guys Hosp, St Johns Inst Dermatol, London, England

Hsu, C. -K.
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机构:
Al Sabah Hosp, Asad Al Hamad Dermatol Ctr, Kuwait, Kuwait
Natl Cheng Kung Univ, Natl Cheng Kung Univ Hosp, Dept Dermatol, Tainan, Taiwan Kings Coll London, Guys Hosp, St Johns Inst Dermatol, London, England

Lee, J. Y. -Y.
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机构:
Al Sabah Hosp, Asad Al Hamad Dermatol Ctr, Kuwait, Kuwait Kings Coll London, Guys Hosp, St Johns Inst Dermatol, London, England

Al-Ajmi, H.
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机构:
Nagoya Univ, Grad Sch Med, Dept Dermatol, Nagoya, Aichi, Japan Kings Coll London, Guys Hosp, St Johns Inst Dermatol, London, England

Akiyama, M.
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机构:
Kings Coll London, Guys Hosp, Dept Genet & Mol Med, London, England Kings Coll London, Guys Hosp, St Johns Inst Dermatol, London, England

Simpson, M. A.
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机构:
Natl Cheng Kung Univ, Coll Med, Inst Clin Med, Tainan, Taiwan Kings Coll London, Guys Hosp, St Johns Inst Dermatol, London, England

McGrath, J. A.
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机构:
Kings Coll London, Guys Hosp, St Johns Inst Dermatol, London, England Kings Coll London, Guys Hosp, St Johns Inst Dermatol, London, England