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No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome.
Schlögel, Matthieu J; Mendola, Antonella; Fastré, Elodie; Vasudevan, Pradeep; Devriendt, Koen; de Ravel, Thomy J L; Van Esch, Hilde; Casteels, Ingele; Arroyo Carrera, Ignacio; Cristofoli, Francesca; Fieggen, Karen; Jones, Katheryn; Lipson, Mark; Balikova, Irina; Singer, Ami; Soller, Maria; Mercedes Villanueva, María; Revencu, Nicole; Boon, Laurence M; Brouillard, Pascal; Vikkula, Miikka.
Afiliación
  • Schlögel MJ; Laboratory of Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Avenue Hippocrate 74, bte B1.74.06, B-1200, Brussels, Belgium. matthieu.schlogel@uclouvain.be.
  • Mendola A; Laboratory of Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Avenue Hippocrate 74, bte B1.74.06, B-1200, Brussels, Belgium. antonella.mendola@uclouvain.be.
  • Fastré E; Laboratory of Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Avenue Hippocrate 74, bte B1.74.06, B-1200, Brussels, Belgium. elodie.fastre@uclouvain.be.
  • Vasudevan P; Department of Clinical Genetics, University Hospitals of Leicester, Leicester Royal Infirmary, Leicester, LE1 5WW, UK. pradeep.vasudevan@uhl-tr.nhs.uk.
  • Devriendt K; Center for Human Genetics, University Hospitals Leuven, KU Leuven, 3000, Leuven, Belgium. koenraad.devriendt@uzleuven.be.
  • de Ravel TJ; Center for Human Genetics, University Hospitals Leuven, KU Leuven, 3000, Leuven, Belgium. thomy.deravel@uzleuven.be.
  • Van Esch H; Center for Human Genetics, University Hospitals Leuven, KU Leuven, 3000, Leuven, Belgium. Hilde.Vanesch@uzleuven.be.
  • Casteels I; Department of Ophthalmology, St Rafael University Hospitals, 3000, Leuven, Belgium. ingele.casteels@uzleuven.be.
  • Arroyo Carrera I; Servicio de Pediatría, Hospital San Pedro de Alcántara, Cáceres, Spain. IARROY@telefonica.net.
  • Cristofoli F; Center for Human Genetics, University Hospitals Leuven, KU Leuven, 3000, Leuven, Belgium. francesca.cristofoli@med.kuleuven.be.
  • Fieggen K; Division of Human Genetics, University of Cape Town, 7700, Cape Town, South Africa. Karen.Fieggen@uct.ac.za.
  • Jones K; Medical Genetics, Kaiser Permanente, Sacramento, CA, 95815, USA. Katheryn.Jones@kp.org.
  • Lipson M; Medical Genetics, Kaiser Permanente, Sacramento, CA, 95815, USA. Mark.Lipson@kp.org.
  • Balikova I; Department of Ophthalmology, Queen Fabiola Children's University Hospital (HUDERF), 1020, Brussels, Belgium. Irina.Balikova@ulb.ac.be.
  • Singer A; Pediatrics and Medical Genetics, Barzilai Medical Center, 78306, Ashkelon, Israel. amihood@netvision.net.il.
  • Soller M; Department of Clinical Genetics, Lund University Hospital, 221 85, Lund, Sweden. maria.soller@med.lu.se.
  • Mercedes Villanueva M; General Hospital of Florencio Varela, Children's Hospital Dr. Pedro Elizalde and Foundation for Neurological Diseases of Childhood (FLENI), C1270AAN, Buenos Aires, Capital Federal, Argentina. mervi3178@yahoo.com.ar.
  • Revencu N; Laboratory of Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Avenue Hippocrate 74, bte B1.74.06, B-1200, Brussels, Belgium. nicole.revencu@uclouvain.be.
  • Boon LM; Center for Human Genetics, Cliniques universitaires Saint-Luc, Université catholique de Louvain, 1200, Brussels, Belgium. nicole.revencu@uclouvain.be.
  • Brouillard P; Laboratory of Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Avenue Hippocrate 74, bte B1.74.06, B-1200, Brussels, Belgium. laurence.boon@uclouvain.be.
  • Vikkula M; Center for Vascular Anomalies, Cliniques universitaires Saint-Luc, Université catholique de Louvain, 1200, Brussels, Belgium. laurence.boon@uclouvain.be.
Orphanet J Rare Dis ; 10: 52, 2015 May 02.
Article en En | MEDLINE | ID: mdl-25934493
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Microcefalia Tipo de estudio: Prognostic_studies Límite: Adult / Female / Humans / Male Idioma: En Revista: Orphanet J Rare Dis Asunto de la revista: MEDICINA Año: 2015 Tipo del documento: Article País de afiliación: Bélgica Pais de publicación: Reino Unido
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Microcefalia Tipo de estudio: Prognostic_studies Límite: Adult / Female / Humans / Male Idioma: En Revista: Orphanet J Rare Dis Asunto de la revista: MEDICINA Año: 2015 Tipo del documento: Article País de afiliación: Bélgica Pais de publicación: Reino Unido