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51

Focal dermal hypoplasia without focal dermal hypoplasia

Contreras-Capetillo, Silvina N., Lombardi, Maria Paola, Pinto-Escalante, Doris, Hennekam, Raoul C.

Journal:

American Journal of Medical Genetics Part A

Year:

2014

Language:

english

File:

PDF, 594 KB

english, 2014

52

Keloids in Rubinstein-Taybi syndrome: a clinical study

van de Kar, A.L., Houge, G., Shaw, A.C., de Jong, D., van Belzen, M.J., Peters, D.J.M., Hennekam, R.C.M.

Journal:

British Journal of Dermatology

Year:

2014

Language:

english

File:

PDF, 355 KB

english, 2014

53

Growth charts for individuals with Rubinstein-Taybi syndrome

Beets, Lex, Rodríguez-Fonseca, Cristina, Hennekam, Raoul C.

Journal:

American Journal of Medical Genetics Part A

Year:

2014

Language:

english

File:

PDF, 2.50 MB

english, 2014

54

Will the right Robin patient rise, please? Definitions and criteria during management of Robin sequence patients in the Netherlands and Belgium

Basart, Hanneke, Kruisinga, Frea H., Breugem, Corstiaan C., Don Griot, J. Peter W., Hennekam, Raoul C., Van der Horst, Chantal M.A.M.

Journal:

Journal of Cranio-Maxillofacial Surgery

Year:

2015

Language:

english

File:

PDF, 230 KB

english, 2015

55

The freewheeling cyclist

Hennekam, Wim, Govers, Michel

Journal:

Physics Education

Year:

1996

Language:

english

File:

PDF, 396 KB

english, 1996

56

Brain Tumors and Syndromes in Children

Bleeker, Fonnet, Hopman, Saskia, Merks, Johannes, Aalfs, Cora, Hennekam, Raoul

Journal:

Neuropediatrics

Year:

2014

Language:

english

File:

PDF, 761 KB

english, 2014

57

Frontometaphyseal dysplasia and keloid formation without FLNA mutations

Basart, Hanneke, van de Kar, Annekatrien, Adès, Lesley, Cho, Tae-Joon, Carter, Erin, Maas, Saskia M., Wilson, Louise C., van der Horst, Chantal M. A. M., Wade, Emma M., Robertson, Stephen P., Hennekam

Journal:

American Journal of Medical Genetics Part A

Year:

2015

Language:

english

File:

PDF, 1.76 MB

english, 2015

58

Growth failure in adolescents: etiology, the role of pubertal timing and most useful criteria for diagnostic workup

Stalman, Susanne E., Hellinga, Ilse, Wit, Jan M., Hennekam, Raoul C.M., Kamp, Gerdine A., Plötz, Frans B.

Journal:

Journal of Pediatric Endocrinology and Metabolism

Year:

2016

Language:

english

File:

PDF, 435 KB

english, 2016

59

X-ray fluorescence core scanning of wet marine sediments: methods to improve quality and reproducibility of high-resolution paleoenvironmental records

Hennekam, Rick, de Lange, Gert

Journal:

Limnology and Oceanography Methods

Year:

2012

Language:

english

File:

PDF, 1.26 MB

english, 2012

60

Cow’s milk allergy in Dutch children: an epigenetic pilot survey

Petrus, Nicole C. M., Henneman, Peter, Venema, Andrea, Mul, Adri, van Sinderen, Femke, Haagmans, Martin, Mook, Olaf, Hennekam, Raoul C., Sprikkelman, Aline B., Mannens, Marcel

Journal:

Clinical and Translational Allergy

Year:

2016

Language:

english

File:

PDF, 1.10 MB

english, 2016

61

Genetic susceptibility for cow’s milk allergy in Dutch children: the start of the allergic march?

Henneman, Peter, Petrus, Nicole C. M., Venema, Andrea, van Sinderen, Femke, van der Lip, Karin, Hennekam, Raoul C., Mannens, Marcel, Sprikkelman, Aline B.

Journal:

Clinical and Translational Allergy

Year:

2016

Language:

english

File:

PDF, 1.04 MB

english, 2016

62

Scalp lipomas and cerebral malformation

HENNEKAM, R. C. M.

Journal:

Clinical Dysmorphology

Year:

1994

File:

PDF, 444 KB

1994

63

Changing attitudes towards diversity: The Netherlands and Morocco compared

Hennekam, Sophie, Tahssain-Gay, Loubna

Journal:

Management Decision

Year:

2015

Language:

english

File:

PDF, 318 KB

english, 2015

64

Barber-Say syndrome and Ablepharon-Macrostomia syndrome: An overview

De Maria, Beatrice, Mazzanti, Laura, Roche, Nathalie, Hennekam, Raoul C.

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 1.73 MB

english, 2016

65

Genetic Survey of a Group of Children with Clefting: Implications for Genetic Counseling

Hofstee, Yvonne, Kors, Nico, Hennekam, Raoul C. M.

Journal:

The Cleft Palate-Craniofacial Journal

Year:

1993

File:

PDF, 261 KB

1993

66

Phenotype, cancer risk, and surveillance in Beckwith-Wiedemann syndrome depending on molecular genetic subgroups

Maas, Saskia M., Vansenne, Fleur, Kadouch, Daniel J. M., Ibrahim, Abdulla, Bliek, Jet, Hopman, Saskia, Mannens, Marcel M., Merks, Johannes H. M., Maher, Eamonn R., Hennekam, Raoul C.

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 433 KB

english, 2016

67

Prevalence of Symptomatic Intracranial Aneurysm and Ischaemic Stroke in Pseudoxanthoma Elasticum

vandenBerg, JanS.P., Hennekam, Raoul C.M., Cruysberg, Jan R.M., Steijlen, Peter M., Swart, Jaap, Tijmes, Nel, Limburg, Martien

Journal:

Cerebrovascular Diseases

Year:

2000

Language:

english

File:

PDF, 172 KB

english, 2000

68

Kaufman oculo-cerebro-facial syndrome in a child with small and absent terminal phalanges and absent nails

Kariminejad, Ariana, Ajeawung, Norbert Fonya, Bozorgmehr, Bita, Dionne-Laporte, Alexandre, Molidperee, Sirinart, Najafi, Kimia, Gibbs, Richard A, Lee, Brendan H, Hennekam, Raoul C, Campeau, Philippe M

Journal:

Journal of Human Genetics

Year:

2017

Language:

english

File:

PDF, 654 KB

english, 2017

69

Thriving of older workers

Hennekam, Sophie

Journal:

Personnel Review

Year:

2017

Language:

english

File:

PDF, 538 KB

english, 2017

70

Laminopathies: clinical presentations and management

Raoul CM Hennekam

Journal:

Orphanet Journal of Rare Diseases

Year:

2015

Language:

english

File:

PDF, 265 KB

english, 2015

71

Dealing with multiple incompatible work-related identities: the case of artists

Hennekam, Sophie, Cornelius, Nelarine, Ng, EddyS

Journal:

Personnel Review

Year:

2017

Language:

english

File:

PDF, 497 KB

english, 2017

72

Consequences of diagnosing a tumor predisposition syndrome in children with cancer: A literature review

Postema, Floor A.M., Hopman, Saskia M.J., Hennekam, Raoul C., Merks, Johannes H.M.

Journal:

Pediatric Blood & Cancer

Year:

2017

Language:

english

File:

PDF, 245 KB

english, 2017

73

Cocos (Keeling) corals reveal 200 years of multi-decadal modulation of southeast Indian Ocean hydrology by Indonesian Throughflow

Hennekam, Rick, Zinke, Jens, van Sebille, Erik, ten Have, Malou, Brummer, Geert-Jan A., Reichart, Gert-Jan

Journal:

Paleoceanography and Paleoclimatology

Year:

2018

Language:

english

File:

PDF, 3.99 MB

english, 2018

74

Variants in members of the cadherin–catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome

Kievit, Anneke, Tessadori, Federico, Douben, Hannie, Jordens, Ingrid, Maurice, Madelon, Hoogeboom, Jeannette, Hennekam, Raoul, Nampoothiri, Sheela, Kayserili, Hülya, Castori, Marco, Whiteford, Margo,

Journal:

European Journal of Human Genetics

Year:

2018

Language:

english

File:

PDF, 2.67 MB

english, 2018

75

Clues for Polygenic Inheritance of Pituitary Stalk Interruption Syndrome From Exome Sequencing in 20 Patients

Zwaveling-Soonawala, Nitash, Alders, Marielle, Jongejan, Aldo, Kovačič, Lidija, Duijkers, Floor A, Maas, Saskia M, Fliers, Eric, van Trotsenburg, A S Paul, Hennekam, Raoul C

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2018

Language:

english

File:

PDF, 951 KB

english, 2018

76

Trace metal analysis of sediment cores using a novel X-ray fluorescence core scanning method

Hennekam, Rick, Sweere, Tim, Tjallingii, Rik, de Lange, Gert J., Reichart, Gert-Jan

Journal:

Quaternary International

Year:

2018

Language:

english

File:

PDF, 5.19 MB

english, 2018

77

European lipodystrophy registry: background and structure

von Schnurbein, Julia, Adams, Claire, Akinci, Baris, Ceccarini, Giovanni, DâApice, Maria Rosaria, Gambineri, Alessandra, Hennekam, Raoul C. M., Jeru, Isabelle, Lattanzi, Giovanna, Miehle, Konstanze,

Journal:

Orphanet Journal of Rare Diseases

Year:

2020

File:

PDF, 1.66 MB

2020

78

Women composersâ use of online communities of practice to build and support their careers

Hennekam, Sophie, Macarthur, Sally, Bennett, Dawn, Hope, Cat, Goh, Talisha

Journal:

Personnel Review

Year:

2020

File:

PDF, 177 KB

2020

79

Coping with mental health conditions at work and its impact on self-perceived job performance

Hennekam, Sophie, Richard, Sarah, Grima, FranÃ§ois

Journal:

Employee Relations

Year:

2020

File:

PDF, 224 KB

2020

80

Morphological and functional variation between isolated populations of British red squirrels ( Sciurus vulgaris )

Cox, P. G., Morris, P. J. R., Hennekam, J. J., Kitchener, A. C., Bennett, Nigel

Journal:

Journal of Zoology

Year:

2020

File:

PDF, 1.15 MB

2020

81

Further delineation of the acro-renal-ocular syndrome

Aalfs, Cora M., van Schooneveld, Mary J., van Keulen, Estéban M., Hennekam, Raoul C. M.

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 1.31 MB

english, 1996

82

EEC syndrome and genitourinary anomalies: An update

Maas, Saskia M., de Jong, Tom P. V. M., Buss, Paul, Hennekam, Raoul C. M.

Journal:

American Journal of Medical Genetics

Year:

1996

File:

PDF, 737 KB

1996

83

Confirmation of the Yemenite (Warburg) deaf-blind hypopigmentation syndrome

Hennekam, Raoul C.M., Gorlin, Robert J.

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 277 KB

english, 1996

84

Autosomal dominant familial radial luxation, carpal fusion and scapular dysplasia with variable heart defects

van Bever, Yolande, Dijkstra, Piet F., Hennekam, Raoul C.M.

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 421 KB

english, 1996

85

Angelman syndrome in adulthood

Laan, Laura A.E.M., den Boer, Annemieke Th., Hennekam, Raoul C.M., Renier, Willy O., Brouwer, Oebele F.

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 527 KB

english, 1996

86

Holoprosencephaly in RSH/Smith-Lemli-Opitz syndrome: Does abnormal cholesterol metabolism affect the function ofsonic hedgehog?

Kelley, Richard I., Roessler, Erich, Hennekam, Raoul C. M., Feldman, Gerald L., Kosaki, Kenjiro, Jones, Marilyn C., Palumbos, Janice C., Muenke, Maximilian

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 724 KB

english, 1996

87

Smith-Lemli-Opitz syndrome diagnosed in a 130-year-old anatomical specimen

Oostra, Roelof-Jan, Baljet, Bob, Schutgens, Ruud B. H., Hennekam, Raoul C. M.

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 357 KB

english, 1997

88

Macrocephaly, facial abnormalities, disproportionate tall stature, and mental retardation—A sib observation

Bakker, Henk D., Hennekam, Raoul C. M.

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 780 KB

english, 1997

89

The Dutch uniform multicenter registration system for genetic disorders and malformation syndromes

Zwamborn-Hanssen, A. Monic N., Bijlsma, Jan B., Hennekam, Eric F. A. M., Lindhout, Dick, Beemer, Frits A., Bakker, Egbert, Kleijer, Wim J., de France, Henny F., de Die-Smulders, Christine E. M., Duran

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 119 KB

english, 1997

90

Rubinstein-Taybi syndrome: Objective evaluation of craniofacial structure

Allanson, Judith E., Hennekam, Raoul C. M.

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 265 KB

english, 1997

91

Mental retardation, ?coarse? face, and hyperbreathing: Confirmation of the Pitt-Hopkins syndrome

Van Balkom, Inge D.C., Quartel, Sytze, Hennekam, Raoul C.M.

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 176 KB

english, 1998

92

Angelman syndrome without detectable chromosome 15q11-13 anomaly: Clinical study of familial and isolated cases

Laan, Laura A.E.M., Halley, Dicky J.J., den Boer, Annemieke Th., Hennekam, Raoul C.M., Renier, Willy O., Brouwer, Oebele F.

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 131 KB

english, 1998

93

Severe acrofacial dysostosis with orofacial clefting and tetraphocomelia diagnosed in the plaster cast of a 100-year-old anatomical specimen

Oostra, Roelof-Jan, Baljet, Bob, Hennekam, Raoul C.M.

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 130 KB

english, 1998

94

Congenital anomalies in the teratological collection of museum Vrolik in Amsterdam, the Netherlands. v: conjoined and acardiac twins

Oostra, Roelof-Jan, Baljet, Bob, Verbeeten, Ben W.J.M., Hennekam, Raoul C.M.

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 1.47 MB

english, 1998

95

Congenital anomalies in the teratological collection of museum Vrolik in Amsterdam, the Netherlands. iv: closure defects of the neural tube

Oostra, Roelof-Jan, Baljet, Bob, Hennekam, Raoul C.M.

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 1.19 MB

english, 1998

96

Repeated unbalanced offspring due to a familial translocation involving chromosomes 5 and 6

Groen, Sabina E., Drewes, Johan G., de Boer, Ellen G., Hoovers, Jan M.N., Hennekam, Raoul C.M.

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 328 KB

english, 1998

97

Costello syndrome: Report and review

van Eeghen, Agnies M., van Gelderen, Ietje, Hennekam, Raoul C.M.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 259 KB

english, 1999

98

Reply to letter to the editor of Jean-Pierre Fryns ? ?on the nosology of severe acrofacial dysostosis with limb deficiency?

Oostra, Roelof Jan, Baljet, Bob, Hennekam, Raoul C.M.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 25 KB

english, 1999

99

Associations between chromosomal anomalies and congenital heart defects: A database search

van Karnebeek, Clara D.M., Hennekam, Raoul C.M.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 100 KB

english, 1999

100

A 100-year-old anatomical specimen presenting with boomerang-like skeletal dysplasia: Diagnostic strategies and outcome

Oostra, Roelof-Jan, Dijkstra, Piet F., Baljet, Bob, Verbeeten, Ben W.J.M., Hennekam, Raoul C.M.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 303 KB

english, 1999

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