المؤلفون: Y. Detisch, Suzanne C E H Sallevelt, D. Marcus-Soekarman, Maaike Vreeburg, M. van Geel, M.A.M. van Steensel, Alexander P.A. Stegmann, C. T. R. M. Schrander-Stumpel

المصدر: Clinical Genetics. 85:328-335

مصطلحات موضوعية: Genetics, medicine.medical_specialty, business.industry, Geneticist, Dermatology, Clinical diagnosis, Medicine, Outpatient clinic, Medical diagnosis, Abnormality, business, Genetics (clinical), X chromosome

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::3bb5bc1174cdfe3cef55e0adb2dbfe40
https://doi.org/10.1111/cge.12162

المؤلفون: Mieke M. van Haelst, Grazia M.S. Mancini, Nadia Abdelmalik, D Marcus-Soekarman, Connie Schrander-Stumpel, Raoul C.M. Hennekam, Jan Maarten Cobben

المساهمون: Clinical Genetics, Genetica & Celbiologie, RS: GROW - School for Oncology and Reproduction, Human genetics, Amsterdam Neuroscience - Complex Trait Genetics, Amsterdam Reproduction & Development (AR&D), APH - Quality of Care, Pediatric surgery, ANS - Amsterdam Neuroscience, APH - Amsterdam Public Health, Human Genetics, Paediatrics, Other Research, Paediatric Genetics

المصدر: American Journal of Medical Genetics Part A, 161A(2), 254-260. Wiley-Liss Inc.
American Journal of Medical Genetics Part A, 161A(2), 254-260. Wiley
American Journal of Medical Genetics Part A, 161A(2), 254-60. Wiley-Liss Inc.
American journal of medical genetics. Part A, 161A(2), 254-260. Wiley-Liss Inc.
Abdelmalik, N, van Haelst, M, Mancini, G, Schrander-Stumpel, C, Marcus-Soekarman, D, Hennekam, R & Cobben, J M 2013, ' Diagnostic outcomes of 27 children referred by pediatricians to a genetics clinic in the Netherlands with suspicion of fetal alcohol spectrum disorders ', American Journal of Medical Genetics Part A, vol. 161A, no. 2, pp. 254-60 . https://doi.org/10.1002/ajmg.a.35672

مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Adolescent, Fetal alcohol syndrome, Fetal alcohol, Pregnancy, Risk Factors, Intellectual disability, Epidemiology, Genetics, medicine, Prevalence, DNA micro array, Humans, Abnormalities, Multiple, Genetic Testing, Child, Referral and Consultation, Genetics (clinical), reproductive and urinary physiology, Genetic testing, Netherlands, Comparative Genomic Hybridization, medicine.diagnostic_test, business.industry, Infant, medicine.disease, female genital diseases and pregnancy complications, Social deprivation, Molecular Diagnostic Techniques, Child, Preschool, Genetics clinic, fetal alcohol spectrum disorders, Female, Poland, business, fetal alcohol syndrome

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c647c772bd77c86ff0bca5debe168e1b
https://doi.org/10.1002/ajmg.a.35672

المؤلفون: Michael D. Briggs, D Marcus-Soekarman, Irene Stolte-Dijkstra, Jacqueline A. Taylor, Aad Verrips, Gail C. Jackson

المساهمون: Genetica & Celbiologie, RS: GROW - School for Oncology and Reproduction

المصدر: American Journal of Medical Genetics Part A, 152A(4), 863-869. Wiley
American Journal of Medical Genetics. Part A, 152A, 4, pp. 863-9
American Journal of Medical Genetics. Part a
American Journal of Medical Genetics. Part A, 152A, 863-9
American Journal of Medical Genetics. Part A, 152A(4), 863-869. Wiley

مصطلحات موضوعية: Male, myopthathy, Biopsy, Gene mutation, medicine.disease_cause, PHENOTYPE, Pseudoachondroplasia, DOMAIN, Pregnancy, COL9A2, Child, Research Articles, Genetics (clinical), 0303 health sciences, Mutation, biology, PSEUDOACHONDROPLASIA, Muscles, 030305 genetics & heredity, MURINE MODEL, Anatomy, Pedigree, 3. Good health, Child, Preschool, Female, medicine.symptom, Functional Neurogenomics [DCN 2], Adult, type IX collagen, Osteochondrodysplasias, Collagen Type IX, Multiple epiphyseal dysplasia, 2 FAMILIES, 03 medical and health sciences, Muscular Diseases, CARTILAGE, osteochondritis dissecans, Genetics, medicine, EXTRACELLULAR-MATRIX, Humans, Family, Myopathy, 030304 developmental biology, EDM2, Cartilage oligomeric matrix protein, Genetic heterogeneity, multiple epiphyseal dysplasia, Infant, Newborn, medicine.disease, Molecular biology, Radiography, biology.protein, CELL STRESS

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac7982c40051bbc9b30270dc99558338
https://doi.org/10.1002/ajmg.a.33240

المؤلفون: M. van Geel, D. Marcus-Soekarman, M. Devies, Maaike Vreeburg, E.A. de Zwart-Storm, Ruud G. L. Nellen, M.A.M. van Steensel, M.I. Schouten

المصدر: American Journal of Medical Genetics Part A. :360-363

مصطلحات موضوعية: Adult, Pathology, medicine.medical_specialty, DNA Mutational Analysis, Hyperkeratosis, Limb Deformities, Congenital, Connexin, Oculodentodigital dysplasia, Biology, medicine.disease_cause, Genetics, medicine, Humans, Abnormalities, Multiple, Eye Abnormalities, Keratoderma, Genetics (clinical), Sequence Deletion, Mutation, integumentary system, Tooth Abnormalities, Keratosis, medicine.disease, Dyskeratosis, Phenotype, Palmoplantar keratoderma, Dysplasia, Connexin 43, Skin Abnormalities, Female, Syndactyly

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8a0a32e60cf70190c9082cccf7682c7a
https://doi.org/10.1002/ajmg.a.31558

المؤلفون: Jan G. Nijhuis, Simon G. F. Robben, L. K. Duin, D. Marcus-Soekarman, M. M. L. Baldewijns

المصدر: Prenatal Diagnosis. 26:373-376

مصطلحات موضوعية: Gynecology, medicine.medical_specialty, Pregnancy, medicine.diagnostic_test, business.industry, Obstetrics, Bronchial atresia, MEDLINE, Obstetrics and Gynecology, Gestational age, Prenatal diagnosis, Magnetic resonance imaging, medicine.disease, medicine, Ultrasonography, business, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::c0c928aca2aa7c987cdb1cfda7fe16a4
https://doi.org/10.1002/pd.1395

المؤلفون: Jeanne Offermans, G. Hamers, Jan G. Nijhuis, J. W. Oosterhuis, A. L. M. Mulder, Simon G. F. Robben, John J.M. Engelen, D. Marcus-Soekarman, S. M. P. F. De Muinck Keizer-Schrama, Leendert H. J. Looijenga, J. C. M. van Lent-Albrechts, Jos P. M. Offermans, Ctrm Schrander-Stumpel, Katja P. Wolffenbuttel

المصدر: Prenatal Diagnosis. 25:279-282

مصطلحات موضوعية: Gynecology, medicine.medical_specialty, Pregnancy, medicine.diagnostic_test, Cytogenetics, Obstetrics and Gynecology, Karyotype, Biology, Y chromosome, medicine.disease, Testis determining factor, Hypospadias, medicine, Amniocentesis, Differential diagnosis, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::852c18877dc326b86f3df7f6086b1c55
https://doi.org/10.1002/pd.996

المؤلفون: Marco A. E. Marcus, Danja Strümper, H.-F. Gramke, H. Van Aken, Marcel E. Durieux, J Stuessel, D Marcus-Soekarman, F. Louwen

المصدر: Fetal Diagnosis and Therapy. 20:208-213

مصطلحات موضوعية: Adult, Anesthesia, Epidural, Embryology, Time Factors, Amniotic fluid, medicine.drug_class, Pilot Projects, Oligohydramnios, Placental insufficiency, Pregnancy, medicine.artery, medicine, Birth Weight, Humans, Radiology, Nuclear Medicine and imaging, Anesthetics, Local, Epidural administration, Pulse, Uterine artery, Bupivacaine, Fetal Growth Retardation, Cesarean Section, Local anesthetic, business.industry, Uterus, Obstetrics and Gynecology, Arteries, General Medicine, Amniotic Fluid, medicine.disease, Anesthesia, Pediatrics, Perinatology and Child Health, Betamethasone, Female, business, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c2f84447a26f4605ae14fe2c1212ed23
https://doi.org/10.1159/000083907

المؤلفون: J. Herbergs, W.H. Loneus, J. Nijhuis, J. J. M. Engelen, D Marcus-Soekarman, S. Velzeboer, Ctrm Schrander-Stumpel, C. E. M. De Die-Smulders, G. Hamers

المصدر: American Journal of Medical Genetics. :288-291

مصطلحات موضوعية: Genetics, Mosaicism, Chromosomes, Human, Pair 11, Infant, Newborn, Chromosome Disorders, Trisomy, Twins, Monozygotic, Biology, medicine.disease, Phenotype, Chromosome Banding, Karyotyping, medicine, Humans, Female, Presentation (obstetrics), In Situ Hybridization, Fluorescence, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df5188060dd59525313215d08b832c49
https://doi.org/10.1002/ajmg.a.20403

المؤلفون: M.A.E. Marcus, M.W.J. van der Heijden, D. Marcus-Soekarman, C. Willekes, J.T. Wilmink, H. Smits

المصدر: International Journal of Obstetric Anesthesia. 18:173-175

مصطلحات موضوعية: Adult, medicine.medical_specialty, Anal Canal, Obstetric anesthesia, Anesthesia, Spinal, Pregnancy, Humans, Medicine, In patient, Cesarean delivery, Cesarean Section, Sacrococcygeal Region, business.industry, Genitourinary system, Infant, Newborn, Pregnancy Outcome, Obstetrics and Gynecology, Spinal anesthesia, Syndrome, medicine.disease, Magnetic Resonance Imaging, Surgery, Radiography, Anesthesiology and Pain Medicine, Anesthesia, Anatomic Abnormality, Gestation, Female, business, Currarino syndrome

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d183b54aa537d563dc3020719e73c92d
https://doi.org/10.1016/j.ijoa.2008.11.006

المؤلفون: M, Vreeburg, S C E H, Sallevelt, A P A, Stegmann, M, van Geel, Y J H A, Detisch, C T R M, Schrander-Stumpel, M A M, van Steensel, D, Marcus-Soekarman

المصدر: Clinical genetics. 85(4)

مصطلحات موضوعية: Chromosome Aberrations, Male, Chromosomes, Human, X, Adolescent, Mosaicism, Karyotyping, Practice Guidelines as Topic, Humans, Chromosome Disorders, Female, Skin Diseases

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::a7451e5d4f0b6ac2ccd32252c056debf
https://pubmed.ncbi.nlm.nih.gov/23578112