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Wyszukujesz frazę ""de Die-Smulders C"" wg kryterium: Autor


Wyświetlanie 1-7 z 7
Tytuł:
Support needs of couples with hereditary breast and ovarian cancer during reproductive decision making.
Autorzy:
Gietel-Habets JJG; Department of Clinical Genetics, Maastricht University Medical Centre+, Maastricht, The Netherlands.; GROW-School for Oncology and Developmental Biology, Maastricht University Medical Centre+, Maastricht, The Netherlands.
de Die-Smulders CEM; Department of Clinical Genetics, Maastricht University Medical Centre+, Maastricht, The Netherlands.; GROW-School for Oncology and Developmental Biology, Maastricht University Medical Centre+, Maastricht, The Netherlands.
Derks-Smeets IAP; Department of Clinical Genetics, Maastricht University Medical Centre+, Maastricht, The Netherlands.; GROW-School for Oncology and Developmental Biology, Maastricht University Medical Centre+, Maastricht, The Netherlands.
Tibben A; Centre for Human and Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands.
Tjan-Heijnen VCG; GROW-School for Oncology and Developmental Biology, Maastricht University Medical Centre+, Maastricht, The Netherlands.; Department of Internal Medicine, Division of Medical Oncology, Maastricht University Medical Centre+, Maastricht, The Netherlands.
van Golde R; GROW-School for Oncology and Developmental Biology, Maastricht University Medical Centre+, Maastricht, The Netherlands.; Department of Obstetrics and Gynaecology, Maastricht University Medical Centre+, Maastricht, The Netherlands.
Gomez-Garcia E; Department of Clinical Genetics, Maastricht University Medical Centre+, Maastricht, The Netherlands.; GROW-School for Oncology and Developmental Biology, Maastricht University Medical Centre+, Maastricht, The Netherlands.
van Osch LADM; Department of Clinical Genetics, Maastricht University Medical Centre+, Maastricht, The Netherlands.; Department of Health Promotion/CAPHRI, Maastricht University, Maastricht, The Netherlands.
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Źródło:
Psycho-oncology [Psychooncology] 2018 Jul; Vol. 27 (7), pp. 1795-1801. Date of Electronic Publication: 2018 May 04.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Conflict, Psychological*
Decision Making*
Breast Neoplasms/*psychology
Carcinoma, Ovarian Epithelial/*psychology
Marriage/*psychology
Adult ; Attitude to Health ; Breast Neoplasms/genetics ; Carcinoma, Ovarian Epithelial/genetics ; Cross-Sectional Studies ; Decision Support Techniques ; Female ; Heterozygote ; Humans ; Male ; Patient Acceptance of Health Care/statistics & numerical data ; Pregnancy
SCR Disease Name:
Breast Cancer, Familial
Czasopismo naukowe
Tytuł:
Dihydropyrimidine dehydrogenase deficiency caused by a novel genomic deletion c.505_513del of DPYD.
Autorzy:
van Kuilenburg AB; Academic Medical Center, Amsterdam, the Netherlands. />Meijer J
Gökcay G
Baykal T
Rubio-Gozalbo ME
Mul AN
de Die-Smulders CE
Weber P
Mori AC
Bierau J
Fowler B
Macke K
Sass JO
Meinsma R
Hennermann JB
Miny P
Zoetekouw L
Roelofsen J
Vijzelaar R
Nicolai J
Hennekam RC
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Źródło:
Nucleosides, nucleotides & nucleic acids [Nucleosides Nucleotides Nucleic Acids] 2010 Jun; Vol. 29 (4-6), pp. 509-14.
Typ publikacji:
Journal Article
MeSH Terms:
Dihydropyrimidine Dehydrogenase Deficiency/*genetics
Dihydrouracil Dehydrogenase (NADP)/*genetics
DNA Mutational Analysis ; Exons/genetics ; Female ; Humans ; Infant ; Sequence Deletion/genetics
Czasopismo naukowe
Tytuł:
Preimplantation genetic diagnosis for mitochondrial DNA disorders: ethical guidance for clinical practice.
Autorzy:
Bredenoord A; Department of Health, Ethics and Society, Faculty of Health, Medicine and Life Sciences, Maastricht University, Maastricht, The Netherlands. />Dondorp W
Pennings G
de Die-Smulders C
Smeets B
de Wert G
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Źródło:
European journal of human genetics : EJHG [Eur J Hum Genet] 2009 Dec; Vol. 17 (12), pp. 1550-9. Date of Electronic Publication: 2009 May 27.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
DNA, Mitochondrial/*genetics
Mitochondrial Diseases/*diagnosis
Practice Guidelines as Topic/*standards
Preimplantation Diagnosis/*ethics
Embryo Research/ethics ; Feasibility Studies ; Female ; Humans ; Informed Consent/ethics ; Mitochondrial Diseases/genetics ; Mutation/genetics ; Pregnancy ; Reproductive Techniques, Assisted/ethics
Czasopismo naukowe
Tytuł:
Molecular analysis of myophosphorylase deficiency in Dutch patients with McArdle's disease.
Autorzy:
Martín MA; Centro de Investigación, Hospital Universitario 12 de Octubre, Madrid, Spain.
Rubio JC
Wevers RA
Van Engelen BG
Steenbergen GC
Van Diggelen OP
De Visser M
De Die-Smulders C
Blázquez A
Andreu AL
Arenas J
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Źródło:
Annals of human genetics [Ann Hum Genet] 2004 Jan; Vol. 68 (Pt 1), pp. 17-22.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Glycogen Phosphorylase, Muscle Form/*genetics
Glycogen Storage Disease Type V/*genetics
Base Sequence ; DNA Primers ; Female ; Genetic Heterogeneity ; Glycogen Storage Disease Type V/enzymology ; Humans ; Male ; Mutation ; Netherlands
Czasopismo naukowe
Tytuł:
Biallelic inactivation of BRCA2 in Fanconi anemia.
Autorzy:
Howlett NG; Department of Pediatric Oncology, Children's Hospital, Harvard Medical School, 44 Binney Street, Boston, MA 02115, USA.
Taniguchi T
Olson S
Cox B
Waisfisz Q
De Die-Smulders C
Persky N
Grompe M
Joenje H
Pals G
Ikeda H
Fox EA
D'Andrea AD
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Źródło:
Science (New York, N.Y.) [Science] 2002 Jul 26; Vol. 297 (5581), pp. 606-9. Date of Electronic Publication: 2002 Jun 13.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
MeSH Terms:
Genes, BRCA2*
Mutation*
BRCA2 Protein/*metabolism
Fanconi Anemia/*genetics
Alleles ; Amino Acid Sequence ; BRCA2 Protein/chemistry ; BRCA2 Protein/genetics ; Cell Line ; DNA Damage ; Female ; Fibroblasts ; Frameshift Mutation ; Gene Silencing ; Genes, BRCA1 ; Genetic Complementation Test ; Germ-Line Mutation ; Homozygote ; Humans ; Male ; Mitomycin/pharmacology ; Molecular Sequence Data ; Pedigree ; Phenotype ; Protein Isoforms ; RNA, Messenger/genetics ; RNA, Messenger/metabolism ; Reverse Transcriptase Polymerase Chain Reaction ; Transfection
Czasopismo naukowe
Tytuł:
Severe feeding problems and congenital laryngostenosis in a patient with 3q23 deletion.
Autorzy:
Chandler KE; Division of Molecular Cell Biology and Genetics, Maastricht University, The Netherlands.
de Die-Smulders CE
Engelen JJ
Schrander JJ
Pokaż więcej
Źródło:
European journal of pediatrics [Eur J Pediatr] 1997 Aug; Vol. 156 (8), pp. 636-8.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Enteral Nutrition*
Gene Deletion*
Abnormalities, Multiple/*genetics
Chromosomes, Human, Pair 3/*genetics
Laryngostenosis/*congenital
Child, Preschool ; Feeding and Eating Disorders/etiology ; Female ; Humans ; Laryngostenosis/genetics ; Phenotype ; Syndrome
Czasopismo naukowe
    Wyświetlanie 1-7 z 7

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