المؤلفون: UCL - MD/BICL - Département de biochimie et de biologie cellulaire, Jaeken, J., Wadman, SK., Duran, M., Vansprang, FJ., Beemer, FA., Holl, RA., Theunissen, PM., Decock, P., Vandenbergh, F., Vincent, Marie-Françoise, Van den Berghe, Georges

المصدر: European Journal of Pediatrics, Vol. 148, no. 2, p. 126-131 (1988)

مصطلحات الفهرس: info:eu-repo/semantics/article

URL: http://hdl.handle.net/2078.1/52854

المؤلفون: Vanagt W; Atrium Medical Center, Paediatrics, PO Box 4446, Heerlen, 6401 CX, The Netherlands., De Bièvre MA, Van den Neucker AM, Van Heurn EW, Theunissen PM

المصدر: BMJ case reports [BMJ Case Rep] 2009; Vol. 2009. Date of Electronic Publication: 2009 Sep 02.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: BMJ Pub. Group Country of Publication: England NLM ID: 101526291 Publication Model: Print-Electronic Cited Medium: Print ISSN: 1757-790X (Print) Linking ISSN: 1757790X NLM ISO Abbreviation: BMJ Case Rep Subsets: PubMed not MEDLINE

المؤلفون: Engelen JJ; Research Institute Growth and Development, Department of Clinical Genetics, University Maastricht, The Netherlands. john.engelen@gen.unimaas.nl, Schrander-Stumpel CT, Theunissen PM, Vaes-Peeters G, Albrechts JC, Hamers AJ

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2003 Apr 30; Vol. 118A (3), pp. 274-8.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print Cited Medium: Print ISSN: 1552-4825 (Print) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

مواضيع طبية MeSH: Chromosomes, Human, Pair 8* , Genetic Markers*, Growth Disorders/*genetics, Child ; Chromosome Aberrations ; Chromosome Banding ; Developmental Disabilities/genetics ; Humans ; In Situ Hybridization, Fluorescence ; Male

المؤلفون: Van den Neucker AM; Department of Pediatrics, University Hospital Maastricht, The Netherlands. AVN@SKIN.AZM.NL, Kerkvliet EM, Theunissen PM, Forget PP

المصدر: Acta paediatrica (Oslo, Norway : 1992) [Acta Paediatr] 2001 Aug; Vol. 90 (8), pp. 873-5.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: Norway NLM ID: 9205968 Publication Model: Print Cited Medium: Print ISSN: 0803-5253 (Print) Linking ISSN: 08035253 NLM ISO Abbreviation: Acta Paediatr Subsets: MEDLINE

مواضيع طبية MeSH: Celiac Disease/*diagnosis , Fats/*analysis , Feces/*chemistry, Adolescent ; Adult ; Celiac Disease/complications ; Celiac Disease/metabolism ; Child ; Child, Preschool ; Cystic Fibrosis/complications ; Female ; Humans ; Infant ; Male ; Mass Screening/methods

المؤلفون: Rosias PR; Department of Pediatrics, Atrium Medical Centre, Heerlen, The Netherlands. p.rosias@orbisconcern.nl, Sijstermans JM, Theunissen PM, Pulles-Heintzberger CF, De Die-Smulders CE, Engelen JJ, Van Der Meer SB

المصدر: Genetic counseling (Geneva, Switzerland) [Genet Couns] 2001; Vol. 12 (3), pp. 273-82.

نوع المنشور: Case Reports; Journal Article; Review

بيانات الدورية: Publisher: Edition Medecine Et Hygiene Country of Publication: Switzerland NLM ID: 9015261 Publication Model: Print Cited Medium: Print ISSN: 1015-8146 (Print) Linking ISSN: 10158146 NLM ISO Abbreviation: Genet Couns Subsets: MEDLINE

مواضيع طبية MeSH: Abnormalities, Multiple/*genetics , Coloboma/*genetics , Craniofacial Abnormalities/*genetics , Iris/*abnormalities, Adult ; Chromosomes, Human, Pair 22 ; Female ; Genetic Markers ; Genetic Variation ; Humans ; Hypertelorism/genetics ; In Situ Hybridization, Fluorescence ; Infant, Newborn ; Karyotyping ; Male ; Phenotype ; Pregnancy ; Syndrome

المؤلفون: Bal M; Department of Molecular Cell Biology and Genetics, University Maastricht, The Netherlands., Schrander-Stumpel CT, Meers LE, Theunissen PM, Hamers AJ, Wennekes MJ, Engelen JJ

المصدر: Genetic counseling (Geneva, Switzerland) [Genet Couns] 2000; Vol. 11 (3), pp. 221-7.

نوع المنشور: Case Reports; Journal Article; Review

بيانات الدورية: Publisher: Edition Medecine Et Hygiene Country of Publication: Switzerland NLM ID: 9015261 Publication Model: Print Cited Medium: Print ISSN: 1015-8146 (Print) Linking ISSN: 10158146 NLM ISO Abbreviation: Genet Couns Subsets: MEDLINE

مواضيع طبية MeSH: Chromosomes, Human, Pair 18/*genetics , Chromosomes, Human, Pair 2/*genetics , Developmental Disabilities/*diagnosis , Developmental Disabilities/*genetics , Epilepsy/*diagnosis , Epilepsy/*genetics , Face/*abnormalities , Translocation, Genetic/*genetics, Chromosome Deletion ; Cytogenetics/methods ; Fatal Outcome ; Humans ; In Situ Hybridization, Fluorescence ; Infant ; Male ; Severity of Illness Index

المؤلفون: van den Berg H, Caron HN, Theunissen PH, Theunissen PM, van der Schoot CE, Kroes W, Beverloo HB, Slater R

المصدر: Leukemia [Leukemia] 1998 Jan; Vol. 12 (1), pp. 102-3.

نوع المنشور: Case Reports; Letter

بيانات الدورية: Publisher: Nature Publishing Group, Specialist Journals Country of Publication: England NLM ID: 8704895 Publication Model: Print Cited Medium: Print ISSN: 0887-6924 (Print) Linking ISSN: 08876924 NLM ISO Abbreviation: Leukemia Subsets: MEDLINE

مواضيع طبية MeSH: Chromosome Aberrations* , Gene Rearrangement* , Proto-Oncogenes* , Transcription Factors*, DNA-Binding Proteins/*genetics , Leukemia, Monocytic, Acute/*genetics, Antigens, CD/analysis ; Antineoplastic Combined Chemotherapy Protocols/therapeutic use ; Bone Marrow/pathology ; Cell Differentiation ; Child ; Female ; Histone-Lysine N-Methyltransferase ; Humans ; Immunophenotyping ; Leukemia, Monocytic, Acute/drug therapy ; Leukemia, Monocytic, Acute/immunology ; Leukemia, Monocytic, Acute/pathology ; Myeloid-Lymphoid Leukemia Protein ; Zinc Fingers

عنوان ترانسليتريتد: Hypofosfatasemie op de kinderleeftijd.

المؤلفون: Mulder AL; Ziekenhuis De Wever en Gregorius, afd. Kindergeneeskunde, Heerlen., van den Bos SN, Gerrits GP, Theunissen PM

المصدر: Nederlands tijdschrift voor geneeskunde [Ned Tijdschr Geneeskd] 1997 Jul 05; Vol. 141 (27), pp. 1345-8.

نوع المنشور: Case Reports; English Abstract; Journal Article

بيانات الدورية: Publisher: Vereniging NTvG Country of Publication: Netherlands NLM ID: 0400770 Publication Model: Print Cited Medium: Print ISSN: 0028-2162 (Print) Linking ISSN: 00282162 NLM ISO Abbreviation: Ned Tijdschr Geneeskd Subsets: MEDLINE

مواضيع طبية MeSH: Bone Diseases/*etiology , Hypophosphatasia/*etiology, Bone Diseases/diagnosis ; Bone Diseases/genetics ; Child, Preschool ; Genetic Counseling ; Humans ; Hypophosphatasia/diagnosis ; Hypophosphatasia/genetics ; Infant ; Male

عنوان ترانسليتريتد: Congenitale intestinale lymfangiëctasie.

المؤلفون: van Kranen WG; De Wever Ziekenhuis, afd. Kindergeneeskunde, Heerlen., Sijstermans JM, Theunissen PM

المصدر: Nederlands tijdschrift voor geneeskunde [Ned Tijdschr Geneeskd] 1992 May 16; Vol. 136 (20), pp. 985-7.

نوع المنشور: Case Reports; English Abstract; Journal Article

بيانات الدورية: Publisher: Vereniging NTvG Country of Publication: Netherlands NLM ID: 0400770 Publication Model: Print Cited Medium: Print ISSN: 0028-2162 (Print) Linking ISSN: 00282162 NLM ISO Abbreviation: Ned Tijdschr Geneeskd Subsets: MEDLINE

مواضيع طبية MeSH: Lymphangiectasis, Intestinal/*congenital, Biopsy ; Clinical Laboratory Techniques ; Diagnostic Imaging ; Dietary Fats/administration & dosage ; Humans ; Infant ; Infant, Newborn ; Lymphangiectasis, Intestinal/diagnosis ; Lymphangiectasis, Intestinal/diet therapy ; Male

المؤلفون: Schrander-Stumpel CT; Department of Clinical Genetics, Academic Hospital Maastricht, University of Limburg., Theunissen PM, Hulsmans RF, Fryns JP

المصدر: Genetic counseling (Geneva, Switzerland) [Genet Couns] 1991; Vol. 2 (4), pp. 259-61.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Edition Medecine Et Hygiene Country of Publication: Switzerland NLM ID: 9015261 Publication Model: Print Cited Medium: Print ISSN: 1015-8146 (Print) Linking ISSN: 10158146 NLM ISO Abbreviation: Genet Couns Subsets: MEDLINE

مواضيع طبية MeSH: Abnormalities, Multiple/*genetics , Brain/*anatomy & histology , Cleft Palate/*genetics , Intellectual Disability/*genetics , Vitiligo/*genetics, Brain/diagnostic imaging ; Child ; Cleft Palate/pathology ; Female ; Fingers/abnormalities ; Humans ; Intellectual Disability/diagnosis ; Language Disorders/etiology ; Psychomotor Disorders/etiology ; Psychomotor Disorders/genetics ; Speech Disorders/etiology ; Tomography, X-Ray Computed ; Vitiligo/diagnosis