Ehlers-Danlos arthrochalasia type (VIIA-B) - expanding the phenotype: from prenatal life through adulthood
Klaassens, M, Reinstein, E, Hilhorst-Hofstee, Y, Schrander, JJP, Malfait, F, Staal, H, ten Have, LC, Blaauw, J, Roggeveen, HCJ, Krakow, D, De Paepe, A, van Steensel, MAM, Pals, G, Graham, JM, Schrander-Stumpel, CTRM
Published in Clinical genetics (01.08.2012)
Published in Clinical genetics (01.08.2012)
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Journal Article
Unique skin changes in a case of Albright hereditary osteodystrophy caused by a rare GNAS1 mutation
Klaassens, M., Blom, E.W., Schrander, J.J.P., Ris‐Stalpers, C., Nieuwenhuijzen Kruseman, A.C., Van Steensel, M.A.M., Schrander‐Stumpel, C.T.R.M.
Published in British journal of dermatology (1951) (01.03.2010)
Published in British journal of dermatology (1951) (01.03.2010)
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Journal Article
Adducted thumbs: A clinical clue to genetic diagnosis
Verhagen, J.M.A, Schrander-Stumpel, C.T.R.M, Blezer, M.M.J, Weber, J.W, Schrander, J.J.P, Rubio-Gozalbo, M.E, Bakker, J.A, Stegmann, A.P.A, Vos, Y.J, Frints, S.G.M
Published in European journal of medical genetics (01.03.2013)
Published in European journal of medical genetics (01.03.2013)
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Journal Article
Kabuki syndrome: Clinical data in 20 patients, literature review, and further guidelines for preventive management
Schrander-Stumpel, Constance Th.R.M., Spruyt, Liesbeth, Curfs, Leopold M.G., Defloor, Truus, Schrander, Jaap J.P.
Published in American journal of medical genetics. Part A (30.01.2005)
Published in American journal of medical genetics. Part A (30.01.2005)
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Journal Article
Determinants of neonatal IgE level: parity, maternal age, birth season and perinatal essential fatty acid status in infants of atopic mothers
Gool, C. J. A. W., Thijs, C., Dagnelie, P. C., Henquet, C. J. M., Van Houwelingen, A. C., Schrander, J., Menheere, P. P. C. A., Brandt, P. A.
Published in Allergy (Copenhagen) (01.09.2004)
Published in Allergy (Copenhagen) (01.09.2004)
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Journal Article
Two sibs with an unusual pattern of skeletal malformations resembling osteogenesis imperfecta: a new type of skeletal dysplasia?
Moog, U, Maroteaux, P, Schrander-Stumpel, C T R M, van Ooij, A, Schrander, J J P, Fryns, J P
Published in Journal of medical genetics (01.11.1999)
Published in Journal of medical genetics (01.11.1999)
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Journal Article
A patient with a de novo 15q24q26.1 interstitial deletion, developmental delay, mild dysmorphism, and very blue irises
Spruijt, L., Engelen, J.J.M., Bruinen‐Smeijsters, I.P., Albrechts, J.C.M., Schrander, J., Schrander‐Stumpel, C.T.R.M.
Published in American journal of medical genetics. Part A (01.09.2004)
Published in American journal of medical genetics. Part A (01.09.2004)
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Journal Article
Prader-Willi syndrome: Causes of death in an international series of 27 cases
Schrander-Stumpel, Constance Th.R.M., Curfs, Leopold M.G., Sastrowijoto, Prapto, Cassidy, Suzanne B., Schrander, Jaap J.P., Fryns, Jean-Pierre
Published in American journal of medical genetics. Part A (01.02.2004)
Published in American journal of medical genetics. Part A (01.02.2004)
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Journal Article
Endochondral ossification in a case of progressive osseous heteroplasia in a young female child
Schrander, Dirk E, Welting, Tim J, Caron, Marjolein M J, Schrander, Jaap J P, van Rhijn, Lodewijk W, Körver-Keularts, Inge, Schrander-Stumpel, Constance T R M
Published in Journal of pediatric orthopaedics. B (01.09.2014)
Published in Journal of pediatric orthopaedics. B (01.09.2014)
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Journal Article
Deletion of the long arm of chromosome 6: two new patients and literature review
Evers, L J, Schrander-Stumpel, C T, Engelen, J J, Hoorntje, T M, Pulles-Heintzberger, C F, Schrander, J J, Albrechts, J C, Peters, J, Fryns, J P
Published in Clinical genetics (01.09.1996)
Published in Clinical genetics (01.09.1996)
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Journal Article
[51Cr]EDTA Intestinal Permeability in Children with Cowʼs Milk Intolerance
Schrander, J J. P, Unsalan-Hooyen, R W. M, Forget, P P, Jansen, J
Published in Journal of pediatric gastroenterology and nutrition (01.02.1990)
Published in Journal of pediatric gastroenterology and nutrition (01.02.1990)
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Journal Article
Follow up study of cow's milk protein intolerant infants
Schrander, J J, Oudsen, S, Forget, P P, Kuijten, R H
Published in European journal of pediatrics (01.10.1992)
Published in European journal of pediatrics (01.10.1992)
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Journal Article
Phenotypic overlap between McKusick-Kaufman and Bardet-Biedl syndromes: are they related?
Schaap, C, ten Tusscher, M P, Schrander, J J, Kuijten, R H, Schrander-Stumpel, C T
Published in European journal of pediatrics (01.02.1998)
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Published in European journal of pediatrics (01.02.1998)
Journal Article
Otoacoustic emissions in screening cleft lip and/or palate children for hearing loss—a feasibility study
Anteunis, Lucien J.C, Brienesse, Patrick, Schrander, Jacobus J.P
Published in International journal of pediatric otorhinolaryngology (01.08.1998)
Published in International journal of pediatric otorhinolaryngology (01.08.1998)
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Journal Article
Conference Proceeding
Healthcare transition in persons with intellectual disabilities: General issues, the Maastricht model, and Prader-Willi syndrome
Schrander-Stumpel, Constance T.R.M., Sinnema, Margje, van den Hout, Lieke, Maaskant, Marian A., van Schrojenstein Lantman-de Valk, Henny M.J., Wagemans, Annemieke, Schrander, Jaap J.P., Curfs, Leopold M.G.
Published in American journal of medical genetics. Part C, Seminars in medical genetics (15.08.2007)
Published in American journal of medical genetics. Part C, Seminars in medical genetics (15.08.2007)
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Journal Article
Does food intolerance play a role in juvenile chronic arthritis?
Schrander, J. J., Marcelis, C., de Vries, M. P., van Santen-Hoeufft, H. M.
Published in Rheumatology (Oxford, England) (01.08.1997)
Published in Rheumatology (Oxford, England) (01.08.1997)
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Journal Article
Multifocal osteomyelitis in a child: a rare manifestation of cat scratch disease: a case report and systematic review of the literature
de Kort, Joris G J L, Robben, Simon G F, Schrander, Jaap J P, van Rhijn, Lodewijk W
Published in Journal of pediatric orthopaedics. B (01.07.2006)
Published in Journal of pediatric orthopaedics. B (01.07.2006)
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Journal Article