المؤلفون: Pozza, Elise, Verdin, Hannah, Deconinck, Hilde, Dheedene, Annelies, Menten, Björn, De Baere, Elfride, Balikova, Irina

المصدر: In European Journal of Medical Genetics May 2020 63(5)

المؤلفون: De Raeve, Linda, Roseeuw, Diane, Bonduelle, Maryse, Deconinck, Hilde, Stene, Jean Jacques

المصدر: Pediatric dermatology, 25 (4

مصطلحات الفهرس: Dermatologie, Pédiatrie, info:eu-repo/semantics/article, info:ulb-repo/semantics/articlePeerReview, info:ulb-repo/semantics/openurl/article

URL: https://dipot.ulb.ac.be/dspace/bitstream/2013/182602/3/182602.pdf
http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/182602
http://worldcat.org/search?q=on:EQY+http://difusion-oai.ulb.ac.be/oai/request+DCG_ENTIRE_REPOSITORY+CNTCOLL

المؤلفون: Désir, Julie, Moya, Graciela, Reish, Orit, Van Regemorter, Nicole, Deconinck, Hilde, David, Karen L, Meire, Françoise M, Abramowicz, Marc

المصدر: Journal of medical genetics, 44 (5

مصطلحات الفهرس: Sciences bio-médicales et agricoles, Abnormalities, Multiple -- genetics, Adolescent, Adult, Amino Acid Sequence, Anion Transport Proteins -- chemistry, Anion Transport Proteins -- genetics, Antiporters -- chemistry, Antiporters -- genetics, Base Sequence, Borates -- metabolism, Child, Child, Preschool, Corneal Dystrophies, Hereditary -- genetics, DNA Mutational Analysis, Endothelium -- abnormalities, Hearing Loss, Sensorineural -- genetics, Humans, Male, Molecular Sequence Data, Mutation -- genetics, Pedigree, Syndrome, info:eu-repo/semantics/article, info:ulb-repo/semantics/articlePeerReview, info:ulb-repo/semantics/openurl/article

URL: http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/53599
http://worldcat.org/search?q=on:EQY+http://difusion-oai.ulb.ac.be/oai/request+DCG_ENTIRE_REPOSITORY+CNTCOLL

المؤلفون: Deconinck, Hilde, Biarent, Dominique, Caspers, Laure, Libert, Jacques

المصدر: Bulletin de la Société belge d'ophtalmologie, 241

مصطلحات الفهرس: Enseignement des sciences bio-médicales et agricoles, info:eu-repo/semantics/article, info:ulb-repo/semantics/articlePeerReview, info:ulb-repo/semantics/openurl/article

URL: http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/112915
http://worldcat.org/search?q=on:EQY+http://difusion-oai.ulb.ac.be/oai/request+DCG_ENTIRE_REPOSITORY+CNTCOLL

المؤلفون: Desk, Julie, Moya, Graciela, Reish, Orit, Van Regemorter, Nkole, Deconinck, Hilde, David, Karen I., Meire, Francoise M., Abramowicz, Marc J.

المصدر: Journal of Medical Genetics; May2007, Vol. 44 Issue 5, p322-326, 5p, 2 Diagrams, 1 Chart

مصطلحات موضوعية: BORATES, GENETIC mutation, DYSTROPHY, ENDOTHELIUM, DEAFNESS, SYNDROMES

المؤلفون: Desir J; Laboratory for Medical Genetics, ULB, Brussels, Belgium., Moya G, Reish O, Van Regemorter N, Deconinck H, David KL, Meire FM, Abramowicz MJ

المصدر: Journal of medical genetics [J Med Genet] 2007 May; Vol. 44 (5), pp. 322-6. Date of Electronic Publication: 2007 Jan 12.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE

مواضيع طبية MeSH: Abnormalities, Multiple/*genetics , Anion Transport Proteins/*genetics , Antiporters/*genetics , Borates/*metabolism , Corneal Dystrophies, Hereditary/*genetics , Endothelium/*abnormalities , Hearing Loss, Sensorineural/*genetics , Mutation/*genetics, Adolescent ; Adult ; Amino Acid Sequence ; Anion Transport Proteins/chemistry ; Antiporters/chemistry ; Base Sequence ; Child ; Child, Preschool ; DNA Mutational Analysis ; Humans ; Male ; Molecular Sequence Data ; Pedigree ; Syndrome