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51

Use of the gummel number in calculating the diffusion current density in Schottky diodes

Journal:

Solid-State Electronics

Year:

1982

Language:

english

File:

PDF, 366 KB

english, 1982

52

A simple method of calculating the minority-carrier current in heavily doped silicon

Journal:

Solid-State Electronics

Year:

1985

Language:

english

File:

PDF, 414 KB

english, 1985

53

The clinical picture of the Börjeson–Forssman–Lehmann syndrome in males and heterozygous females with PHF6 mutations

G Turner, KM Lower, SM White, M Delatycki, AK Lampe, M Wright, J Clayton- Smith, B Kerr, S Schelley, HE Hoyme, BBA De Vries, T Kleefstra, M Grompe, B Cox, J Gecz, M Partington

Journal:

Clinical Genetics

Year:

2004

Language:

english

File:

PDF, 1.42 MB

english, 2004

54

Landscape-scale experiment demonstrates that Wadden Sea intertidal flats are used to capacity by molluscivore migrant shorebirds

Casper Kraan, Jan A. Van Gils, Bernard Spaans, Anne Dekinga, Allert I. Bijleveld, Marc Van Roomen, Romke Kleefstra, Theunis Piersma

Journal:

Journal of Animal Ecology

Year:

2009

Language:

english

File:

PDF, 820 KB

english, 2009

55

Can diabetes management be safely transferred to practice nurses in a primary care setting? A randomised controlled trial

Sebastiaan T Houweling, Nanne Kleefstra, Kornelis JJ van Hateren, Klaas H Groenier, Betty Meyboom-de Jong, Henk JG Bilo

Journal:

Journal of Clinical Nursing

Year:

2011

Language:

english

File:

PDF, 121 KB

english, 2011

56

Commentary on Jelsness-Jørgensen L-P, Ribu L, Bernklev T & Moum BA (2011) Measuring health-related quality of life in non-complicated diabetes patients may be an effective parameter to assess patients at risk of a more serious disease course: a cross-sectional study of two diabetes outpatient groups. Journal of Clinical Nursing 20, 1255–1263

Kornelis JJ van Hateren, Gijs WD Landman, Nanne Kleefstra, Henk JG Bilo

Journal:

Journal of Clinical Nursing

Year:

2012

Language:

english

File:

PDF, 56 KB

english, 2012

57

Genotype-phenotype studies in three families with mutations in the polyglutamine-binding protein 1 gene (PQBP1)

T Kleefstra, CE Franken, YHJM Arens, GJA Ramakers, HG Yntema, EA Sistermans, CFCH Hulsmans, WN Nillesen, H Van Bokhoven, BBA De Vries, BCJ Hamel

Journal:

Clinical Genetics

Year:

2004

Language:

english

File:

PDF, 693 KB

english, 2004

58

X-linked mental retardation: further lumping, splitting and emerging phenotypes

T Kleefstra, BCJ Hamel

Journal:

Clinical Genetics

Year:

2005

Language:

english

File:

PDF, 652 KB

english, 2005

59

Pure subtelomeric microduplications as a cause of mental retardation

EM Ruiter, DA Koolen, T Kleefstra, WM Nillesen, R Pfundt, N De Leeuw, BCJ Hamel, HG Brunner, EA Sistermans, BBA De Vries

Journal:

Clinical Genetics

Year:

2007

Language:

english

File:

PDF, 331 KB

english, 2007

60

Familial Kleefstra syndrome due to maternal somatic mosaicism for interstitial 9q34.3 microdeletions

MH Willemsen, G Beunders, M Callaghan, N de Leeuw, WM Nillesen, HG Yntema, JM van Hagen, AWM Nieuwint, N Morrison, STM Keijzers-Vloet, A Hoischen, HG Brunner, J Tolmie, T Kleefstra

Journal:

Clinical Genetics

Year:

2011

Language:

english

File:

PDF, 930 KB

english, 2011

61

Modification of diet in renal disease and Cockcroft–Gault formulas do not predict mortality (ZODIAC-6)

H. J. G. Bilo, S. J. J. Logtenberg, H. Joosten, K. H. Groenier, L. J. Ubink-Veltmaat, N. Kleefstra

Journal:

Diabetic Medicine

Year:

2009

Language:

english

File:

PDF, 268 KB

english, 2009

62

Reply to Akilen et al. Effect of cinnamon on glycated haemoglobin and blood pressure

N. Kleefstra, S. J. J. Logtenberg, K. H. Groenier, H. J. G. Bilo

Journal:

Diabetic Medicine

Year:

2011

Language:

english

File:

PDF, 37 KB

english, 2011

63

Glycaemic control and the risk of mortality in elderly type 2 diabetic patients (ZODIAC-20)

K. J. J. van Hateren, G. W. D. Landman, N. Kleefstra, I. Drion, K. H. Groenier, S. T. Houweling, H. J. G. Bilo

Journal:

International Journal of Clinical Practice

Year:

2011

Language:

english

File:

PDF, 98 KB

english, 2011

64

Time for considering other blood pressure target values in elderly patients with type 2 diabetes?

K. J. J. van Hateren, G. W. D. Landman, N. Kleefstra, S. T. Houweling, K. van der Meer, H. J. G. Bilo

Journal:

International Journal of Clinical Practice

Year:

2012

Language:

english

File:

PDF, 100 KB

english, 2012

65

Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy

Lugtenberg, Dorien, Kleefstra, Tjitske, Oudakker, Astrid R, Nillesen, Willy M, Yntema, Helger G, Tzschach, Andreas, Raynaud, Martine, Rating, Dietz, Journel, Hubert, Chelly, Jamel

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 224 KB

english, 2008

66

Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy

Lugtenberg, Dorien, Kleefstra, Tjitske, Oudakker, Astrid R, Nillesen, Willy M, Yntema, Helger G, Tzschach, Andreas, Raynaud, Martine, Rating, Dietz, Journel, Hubert, Chelly, Jamel

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 37 KB

english, 2009

67

Characterization of novel SLC6A8 variants with the use of splice-site analysis tools and implementation of a newly developed LOVD database

Betsalel, Ofir T, Rosenberg, Efraim H, Almeida, Ligia S, Kleefstra, Tjitske, Schwartz, Charles E, Valayannopoulos, Vassili, Abdul-Rahman, Omar, Poplawski, Nicola, Vilarinho, Laura, Wolf, Philipp

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 910 KB

english, 2010

68

Characterisation of TSC1 promoter deletions in tuberous sclerosis complex patients

van den Ouweland, Ans M W, Elfferich, Peter, Zonnenberg, Bernard A, Arts, Willem F, Kleefstra, Tjitske, Nellist, Mark D, Millan, Jose M, Withagen-Hermans, Caroline, Maat-Kievit, Anneke J A, Halley, Di

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 546 KB

english, 2010

69

Homozygosity mapping in outbred families with mental retardation

Schuurs-Hoeijmakers, Janneke H M, Hehir-Kwa, Jayne Y, Pfundt, Rolph, van Bon, Bregje W M, de Leeuw, Nicole, Kleefstra, Tjitske, Willemsen, Michèl A, van Kessel, Ad Geurts, Brunner, Han G, Veltman, Jor

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 424 KB

english, 2011

70

Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway

Kleefstra, Tjitske, Wortmann, Saskia B, Rodenburg, Richard J T, Bongers, Ernie M H F, Hadzsiev, Kinga, Noordam, Cees, van den Heuvel, Lambert P, Nillesen, Willy M, Hollody, Katalin, Gillessen-Kaesbach

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 425 KB

english, 2010

71

Identification of an unbalanced cryptic translocation between the chromosomes 8 and 13 in two sisters with mild mental retardation accompanied by mild dysmorphic features

Kleefstra, Tjitske, van de Zande, Guillaume, Merkx, Gerard, Mieloo, Hanneke, Hoovers, Jan MN, Smeets, Dominique

Journal:

European Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 160 KB

english, 2000

72

Low frequency of MECP2 mutations in mentally retarded males

Yntema, Helger G, Kleefstra, Tjitske, Oudakker, Astrid R, Romein, Tom, de Vries, Bert B A, Nillesen, Willy, Sistermans, Erik A, Brunner, Han G, Hamel, Ben C J, van Bokhoven, Hans

Journal:

European Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 76 KB

english, 2002

73

MECP2 analysis in mentally retarded patients: implications for routine DNA diagnostics

Kleefstra, Tjitske, Yntema, Helger G, Nillesen, Willy M, Oudakker, Astrid R, Mullaart, Reinier A, Geerdink, Niels, van Bokhoven, Hans, de Vries, Bert B A, Sistermans, Erik A, Hamel, Ben C J

Journal:

European Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 117 KB

english, 2003

74

Adult Phenotypes in Angelman- and Rett-Like Syndromes

Willemsen, M.H., Rensen, J.H.M., van Schrojenstein-Lantman de Valk, H.M.J., Hamel, B.C.J., Kleefstra, T.

Journal:

Molecular Syndromology

Year:

2012

Language:

english

File:

PDF, 385 KB

english, 2012

75

Arbocuratieve samenwerking verbetert

R. B. Kool, S. M. Kleefstra, J. J. A. Stavenuiter, J. M. Carlier

Journal:

Tijdschrift voor Bedrijfs- en Verzekeringsgeneeskunde

Year:

2006

Language:

dutch

File:

PDF, 49 KB

dutch, 2006

76

Taakverschuivingen in de eerstelijns diabeteszorg

Bas Houweling, Nanno Kleefstra, Evert van Ballegooie, Simon Verhoeven, Henk Bilo, Betty Meyboom-de Jong

Journal:

Tijdschrift voor praktijk ondersteuning

Year:

2006

Language:

dutch

File:

PDF, 97 KB

dutch, 2006

77

Zelfzorginterventies bij patiënten met diabetes mellitus type 2

N. Kleefstra, S. T. Houweling

Journal:

Year:

2010

Language:

dutch

File:

PDF, 241 KB

dutch, 2010

78

Ontwikkelingen in genetische diagnostiek van verstandelijke beperking

M. H. Willemsen, T. Kleefstra

Journal:

Year:

2011

Language:

dutch

File:

PDF, 238 KB

dutch, 2011

79

Characterization of the metabolic and physiologic response to chromium supplementation in subjects with type 2 diabetes mellitus

Nanne Kleefstra, Sebastiaan T. Houweling, Klaas H. Groenier, Henk J.G. Bilo

Journal:

Year:

2010

Language:

english

File:

PDF, 77 KB

english, 2010

80

Patient satisfaction revisited: A multilevel approach

Karin Dorieke Hekkert, Sezgin Cihangir, Sophia Martine Kleefstra, Bernard van den Berg, Rudolf Bertijn Kool

Journal:

Social Science & Medicine

Year:

2009

Language:

english

File:

PDF, 159 KB

english, 2009

81

Detection of parasitic potential wells or barriers in bulk-transport charge-coupled devices

Kleefstra, M., Heuwekemeijer, P.C.

Journal:

IEE Journal on SolidState and Electron Devices

Year:

1977

Language:

english

File:

PDF, 264 KB

english, 1977

82

Calculation of potential profiles in the junction charge-coupled device

Herman, G.C., Hartgring, C.D., Kleefstra, M.

Journal:

IEEE Transactions on Electron Devices

Year:

1978

Language:

english

File:

PDF, 420 KB

english, 1978

83

Experimental results on junction charge-coupled devices

Wolsheimer, E.A., Kleefstra, M.

Journal:

IEEE Transactions on Electron Devices

Year:

1982

Language:

english

File:

PDF, 830 KB

english, 1982

84

Severe Dejerine-Sottas disease with respiratory failure and dysmorphic features in association with a PMP22 point mutation and a 3q23 microdeletion

Nicol C. Voermans, Tjitske Kleefstra, Anneke A. Gabreëls-Festen, Brigitte H. W. Faas, Erik-Jan Kamsteeg, Henry Houlden, Matilde Laurá, James M. Polke, Amelie Pandraud, Fred van Ruissen, Baziel G. van

Journal:

Journal of the Peripheral Nervous System

Year:

2012

Language:

english

File:

PDF, 462 KB

english, 2012

85

Disruption of an EHMT1-Associated Chromatin-Modification Module Causes Intellectual Disability

Tjitske Kleefstra, Jamie M. Kramer, Kornelia Neveling, Marjolein H. Willemsen, Tom S. Koemans, Lisenka E.L.M. Vissers, Willemijn Wissink-Lindhout, Michaela Fenckova, Willem M.R. van den Akker, Nael Na

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 770 KB

english, 2012

86

Clinical and molecular characterization of two patients with a 6.75 Mb overlapping deletion in 8p12p21 with two candidate loci for congenital heart defects

Marjolein H. Willemsen, Nicole de Leeuw, Rolph Pfundt, Bert B.A. de Vries, Tjitske Kleefstra

Journal:

European Journal of Medical Genetics

Year:

2009

Language:

english

File:

PDF, 390 KB

english, 2009

87

Emerging microdeletion and microduplication syndromes; the counseling paradigm

Conny M.A. van Ravenswaaij-Arts, Tjitske Kleefstra

Journal:

European Journal of Medical Genetics

Year:

2009

Language:

english

File:

PDF, 77 KB

english, 2009

88

14q12 Microdeletion syndrome and congenital variant of Rett syndrome

Maria Antonietta Mencarelli, Tjitske Kleefstra, Eleni Katzaki, Filomena Tiziana Papa, Monika Cohen, Rolph Pfundt, Francesca Ariani, Ilaria Meloni, Francesca Mari, Alessandra Renieri

Journal:

European Journal of Medical Genetics

Year:

2009

Language:

english

File:

PDF, 311 KB

english, 2009

89

Neurologic Aspects of MECP2 Gene Duplication in Male Patients

Bernard Echenne, Agathe Roubertie, Dorien Lugtenberg, Titske Kleefstra, Ben C.J. Hamel, Hans Van Bokhoven, Didier Lacombe, Christophe Philippe, Philippe Jonveaux, Arjan P.M. de Brouwer

Journal:

Pediatric Neurology

Year:

2009

Language:

english

File:

PDF, 311 KB

english, 2009

90

Procalcitonin in intensive care units: the PRORATA trial

Gijs W Landman, Nanne Kleefstra

Journal:

Year:

2010

Language:

english

File:

PDF, 43 KB

english, 2010

91

Interarm blood pressure difference and vascular disease

N Kleefstra, ST Houweling, HJG Bilo

Journal:

Year:

2012

Language:

english

File:

PDF, 77 KB

english, 2012

92

Hepatitis yes, but toxic effect of chromium?

Nanne Kleefstra, Sebastiaan T. Houweling, Henk J.G. Bilo

Journal:

European Journal of Internal Medicine

Year:

2003

Language:

english

File:

PDF, 40 KB

english, 2003

93

High Prevalence of SLC6A8 Deficiency in X-Linked Mental Retardation

Efraim H. Rosenberg, Ligia S. Almeida, Tjitske Kleefstra, Rose S. deGrauw, Helger G. Yntema, Nadia Bahi, Claude Moraine, Hans-Hilger Ropers, Jean-Pierre Fryns, Ton J. deGrauw, Cornelis Jakobs, Gajja S

Journal:

The American Journal of Human Genetics

Year:

2004

Language:

english

File:

PDF, 2.10 MB

english, 2004

94

ZNF674: A New Krüppel-Associated Box–Containing Zinc-Finger Gene Involved in Nonsyndromic X-Linked Mental Retardation

Dorien Lugtenberg, Helger G. Yntema, Martijn J.G. Banning, Astrid R. Oudakker, Helen V. Firth, Lionel Willatt, Martine Raynaud, Tjitske Kleefstra, Jean-Pierre Fryns, Hans-Hilger Ropers, Jamel Chelly,

Journal:

The American Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 1.21 MB

english, 2006

95

Loss-of-Function Mutations in Euchromatin Histone Methyl Transferase 1 (EHMT1) Cause the 9q34 Subtelomeric Deletion Syndrome

Tjitske Kleefstra, Han G. Brunner, Jeanne Amiel, Astrid R. Oudakker, Willy M. Nillesen, Alex Magee, David Geneviève, Valérie Cormier-Daire, Hilde van Esch, Jean-Pierre Fryns, Ben C.J. Hamel, Erik A. S

Journal:

The American Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 400 KB

english, 2006

96

Expanding the phenotype associated with FOXG1 mutations and in vivo FoxG1 chromatin-binding dynamics

R De Filippis, L Pancrazi, K Bjørgo, A Rosseto, T Kleefstra, E Grillo, A Panighini, F Cardarelli, I Meloni, F Ariani, MA Mencarelli, J Hayek, A Renieri, M Costa, F Mari

Journal:

Clinical Genetics

Year:

2012

Language:

english

File:

PDF, 1.03 MB

english, 2012

97

Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

de Ligt, Joep, Willemsen, Marjolein H., van Bon, Bregje W.M., Kleefstra, Tjitske, Yntema, Helger G., Kroes, Thessa, Vulto-van Silfhout, Anneke T., Koolen, David A., de Vries, Petra, Gilissen, Christia

Journal:

Boston Medical and Surgical Journal

Year:

2012

Language:

english

File:

PDF, 492 KB

english, 2012

98

A compound heterozygous mutation in DPAGT1 results in a congenital disorder of glycosylation with a relatively mild phenotype

Iqbal, Zafar, Shahzad, Mohsin, Vissers, Lisenka E L M, van Scherpenzeel, Monique, Gilissen, Christian, Razzaq, Attia, Zahoor, Muhammad Yasir, Khan, Shaheen N, Kleefstra, Tjitske, Veltman, Joris A, de

Journal:

European Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 1.60 MB

english, 2013

99

P.6.003 Nicotinic receptor-induced hypothermia:A pharmacological evaluation

A. Kleefstra, J. Glennon, A.C. McCreary

Journal:

European Neuropsychopharmacology

Year:

2004

Language:

english

File:

PDF, 117 KB

english, 2004

100

Progressive intestinal, neurological and psychiatric problems in two adult males with cerebral creatine deficiency caused by an SLC6A8 mutation

T Kleefstra, EH Rosenberg, GS Salomons, H Stroink, H Van Bokhoven, BCJ Hamel, BBA De Vries

Journal:

Clinical Genetics

Year:

2005

Language:

english

File:

PDF, 571 KB

english, 2005

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