G. Kleijer: search on Z-Library

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1

Phenotypic and genotypic overlap between atelosteogenesis type 2 and diastrophic dysplasia

Antonio Rossi, Hans J. van der Harten, Frits A. Beemer, Wim J. Kleijer, Richard Gitzelmann, Beat Steinmann, A. Superti-Furga

Journal:

Year:

1996

Language:

english

File:

PDF, 158 KB

english, 1996

2

Glycogenosis type II (acid maltase deficiency)

Dr. A. J. J. Reuser, Dr. M. A. Kroos, Dr. M. M. P. Hermans, Dr. A. G. A. Bijvoet, Dr. M. P. Verbeet, Dr. O. P. Van Diggelen, Dr. W. J. Kleijer, Dr. A. T. Van Der Ploeg

Journal:

Year:

1995

Language:

english

File:

PDF, 826 KB

english, 1995

3

Glycogen storage disease type II: Genetic and biochemical analysis of novel mutations in infantile patients from Turkish ancestry

Monique M. P. Hermans, Marian A. Kroos, Jan A. M. Smeitink, Ans T. van der Ploeg, Wim J. Kleijer, Arnold J. J. Reuser

Journal:

Year:

1998

Language:

english

File:

PDF, 192 KB

english, 1998

4

Prenatal diagnosis of the neuronal ceroid lipofuscinoses

W. J. Kleijer, O. P. van Diggelen

Journal:

Prenatal Diagnosis

Year:

2000

Language:

english

File:

PDF, 49 KB

english, 2000

5

Transabdominal chorionic villus sampling in a multiple pregnancy at risk of argininosuccinic aciduria: A case report

Dr. Leen Pijpers, Wim J. Kleijer, Annette Reuss, Milena G. J. Jahoda, Frans J. Los, Eva S. Sachs, Juriy W. Wladimiroff

Journal:

American Journal of Medical Genetics Part A

Year:

1990

Language:

english

File:

PDF, 232 KB

english, 1990

6

Deep brain stimulation in Tourette's syndrome: Two targets?

Linda Ackermans, Yasin Temel, Danielle Cath, Chris van der Linden, Richard Bruggeman, Mariska Kleijer, Pieter Nederveen, Koen Schruers, Henry Colle, Marina A.J. Tijssen, Veerle Visser-Vandewalle

Journal:

Movement Disorders

Year:

2006

Language:

english

File:

PDF, 90 KB

english, 2006

7

Prenatal diagnosis of purine nucleoside phosphorylase deficiency in the first and second trimesters of pregnancy

W. J. Kleijer, L. M. Hussaarts-Odijk, F. J. Los, L. Pijpers, P. K. de Bree, M. Duran

Journal:

Prenatal Diagnosis

Year:

1989

Language:

english

File:

PDF, 419 KB

english, 1989

8

Contactins in the neurobiology of autism

Zuko, Amila, Kleijer, Kristel T.E., Oguro-Ando, Asami, Kas, Martien J.H., van Daalen, Emma, van der Zwaag, Bert, Burbach, J. Peter H.

Journal:

European Journal of Pharmacology

Year:

2013

Language:

english

File:

PDF, 2.74 MB

english, 2013

9

Continuous Glucose Monitoring in Patients with Type 1 Diabetes and Impaired Awareness of Hypoglycemia: Also Effective in Patients with Psychological Distress?

van Beers, Cornelis A.J., de Wit, Maartje, Kleijer, Susanne J., Geelhoed-Duijvestijn, Petronella H., DeVries, J. Hans, Kramer, Mark H.H., Diamant, Michaela, Serné, Erik H., Snoek, Frank J.

Journal:

Diabetes Technology & Therapeutics

Year:

2017

Language:

english

File:

PDF, 170 KB

english, 2017

10

Toward personalized treatment of hallucinations

Sommer, Iris E., Kleijer, Hidde, Hugdahl, Kenneth

Journal:

Current Opinion in Psychiatry

Year:

2018

Language:

english

File:

PDF, 515 KB

english, 2018

11

Possible new variant of Nijmegen breakage syndrome

Der Kaloustian, Vazken M., Kleijer, Wim, Booth, Ann, Auerbach, Arleen D., Mazer, Bruce, Elliott, Alison M., Abish, Sharon, Usher, Robert, Watters, Gordon, Vekemans, Michel, Eydoux, Patrice

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 611 KB

english, 1996

12

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

13

Prenatal lethality of a homozygous null mutation in the human glucocerebrosidase gene

Tayebi, Nahid, Cushner, Shana R., Kleijer, Wim, Lau, Elaine K., Damschroder-Williams, Patricia J., Stubblefield, Barbara K., Den Hollander, Jan, Sidransky, Ellen

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 162 KB

english, 1997

14

PRENATAL DIAGNOSIS OF SANFILIPPO A SYNDROME: EXPERIENCE IN 35 PREGNANCIES AT RISK AND THE USE OF A NEW FLUOROGENIC SUBSTRATE FOR THE HEPARIN SULPHAMIDASE ASSAY

W. J. KLEIJER, E. A. KARPOVA, G. C. GEILEN, J. L. M. KEULEMANS, J. G. M. HUIJMANS, I. V. TSVETKOVA, YA. V. VOZNYI, O. P. VAN DIGGELEN

Journal:

Prenatal Diagnosis

Year:

1996

Language:

english

File:

PDF, 538 KB

english, 1996

15

AMNIOTIC FLUID ODD-CHAIN FATTY ACIDS ARE INCREASED IN PROPIONIC ACIDAEMIA

M. ÇOKER, M. DURAN, J. B. C. DE KLERK, W. J. KLEIJER, C. JAKOBS, J. G. M. HUIJMANS

Journal:

Prenatal Diagnosis

Year:

1996

Language:

english

File:

PDF, 261 KB

english, 1996

16

β-Glucuronidase deficiency as cause of recurrent hydrops fetalis: the first early prenatal diagnosis by chorionic villus sampling

H. W. F. van Eyndhoven, H. G. ter Brugge, A. J. van Essen, W. J. Kleijer

Journal:

Prenatal Diagnosis

Year:

1998

Language:

english

File:

PDF, 118 KB

english, 1998

17

Amniocentesis or chorionic villus sampling in multiple gestations? Experience with 500 cases

Cardi van den Berg, Armando P. G. Braat, Diane Van Opstal, Dicky J. J. Halley, Wim J. Kleijer, Nicolette S. den Hollander, Helen Brandenburg, Leen Pijpers, Frans J. Los

Journal:

Prenatal Diagnosis

Year:

1999

Language:

english

File:

PDF, 233 KB

english, 1999

18

First-trimester diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) using PPT enzyme assay and CLN1 mutation analysis

B. B. A. de Vries, W. J. Kleijer, J. L. M. Keulemans, Y. V. Voznyi, P. F. Franken, M. C. M. Eurlings, R. J. Galjaard, M. Losekoot, C. E. Catsman-Berrevoets, M. H. Breuning, P. E. M. Taschner, O. P. va

Journal:

Prenatal Diagnosis

Year:

1999

Language:

english

File:

PDF, 163 KB

english, 1999

19

First-trimester diagnosis of Morquio disease type A

W. J. Kleijer, G. C. Geilen, V. Garritsen, J. G. M. Huijmans, F. J. Los, Y. V. Voznyi, O. P. van Diggelen

Journal:

Prenatal Diagnosis

Year:

2000

Language:

english

File:

PDF, 44 KB

english, 2000

20

Identification of 31 novel mutations in the N-acetylgalactosamine-6-sulfatase gene reveals excessive allelic heterogeneity among patients with Morquio A syndrome

Susanna Bunge, Wim J. Kleijer, Anna Tylki-Szymanska, Cordula Steglich, Michael Beck, Shunji Tomatsu, Seiji Fukuda, Ben J. H. M. Poorthuis, Barbara Czartoryska, Tadao Orii, Andreas Gal

Journal:

Year:

1997

Language:

english

File:

PDF, 202 KB

english, 1997

21

Glucocerebrosidase genotype of Gaucher patients in The Netherlands: Limitations in prognostic value

Rolf G. Boot, Carla E. M. Hollak, Marri Verhoek, Paul Sloof, Ben J. H. M. Poorthuis, Wim J. Kleijer, Ron A. Wevers, Marinus H. J. van Oers, Marcel M. A. M. Mannens, Johannes M. F. G. Aerts, Sonja van

Journal:

Year:

1997

Language:

english

File:

PDF, 220 KB

english, 1997

22

Identification of 16 sulfamidase gene mutations including the common R74C in patients with mucopolysaccharidosis type IIIA (Sanfilippo A)

Susanna Bunge, Hüseyin Ince, Cordula Steglich, Wim J. Kleijer, Michael Beck, Jacek Zaremba, Otto P. van Diggelen, Birgit Weber, John J. Hopwood, Andreas Gal

Journal:

Year:

1997

Language:

english

File:

PDF, 152 KB

english, 1997

23

Two extremes of the clinical spectrum of glycogen storage disease type II in one family: A matter of genotype

Marian A. Kroos, Magna Van der Kraan, Otto P. Van Diggelen, Wim J. Kleijer, Arnold J. J. Reuser

Journal:

Year:

1997

Language:

english

File:

PDF, 158 KB

english, 1997

24

ATM germline mutations in classical ataxia-telangiectasia patients in the Dutch population

A Broeks, A de Klein, AN Floore, M Muijtjens, WJ Kleijer, NG Jaspers, LJ van 't Veer

Journal:

Year:

1998

Language:

english

File:

PDF, 251 KB

english, 1998

25

Identification of 9 novel IDS gene mutations in 19 unrelated Hunter syndrome (Mucopolysaccharidosis type II) patients

Stanislav L. Karsten, Elena Voskoboeva, Britt-Marie Carlberg, Wim J. Kleijer, T Tönnesen, Ulf Pettersson, Marie-Louise Bondeson

Journal:

Year:

1998

Language:

english

File:

PDF, 104 KB

english, 1998

26

Analysis of a 43.6 kb deletion in a patient with Hunter syndrome (MPSII): Identification of a fusion transcript including sequences from the gene W and the IDS gene

K. Lagerstedt, B.-M. Carlberg, R. Karimi-Nejad, W.J. Kleijer, M.-L. Bondeson

Journal:

Year:

2000

Language:

english

File:

PDF, 474 KB

english, 2000

27

First-trimester diagnosis of late-infantile neuronal ceroid lipofuscinosis (LINCL) by tripeptidyl peptidase I assay and CLN2 mutation analysis

W. J. Kleijer, O. P. van Diggelen, J. L. M. Keulemans, M. Losekoot, V. H. Garritsen, H. Stroink, D. Majoor-Krakauer, P. F. Franken, M. C. M. Eurlings, P. E. M. Taschner, F. J. Los, R. J. H. Galjaard

Journal:

Prenatal Diagnosis

Year:

2001

Language:

english

File:

PDF, 53 KB

english, 2001

28

T FcγRIIIA-158F allele is a risk factor for systemic lupus erythematosus

Harry R. Koene, Marion Kleijer, Anton J. G. Swaak, Kathleen E. Sullivan, Marc Bijl, Michelle A. Petri, Cees G. M. Kallenberg, Dirk Roos, Albert E. G. K. von dem Borne, Masja de Haas

Journal:

Arthritis & Rheumatism

Year:

1998

Language:

english

File:

PDF, 603 KB

english, 1998

29

Morquio B syndrome: A primary defect in β-galactosidase

Gijsbertus T. J. van der Horst, Wim J. Kleijer, André T. Hoogeveen, Jan G. M. Huijmans, Wim Blom, Dr. Otto P. van Diggelen

Journal:

American Journal of Medical Genetics Part A

Year:

1983

Language:

english

File:

PDF, 902 KB

english, 1983

30

Impact of first-trimester chromosome, DNA, and metabolic studies on pregnancies at high genetic risk. Experience with 1,000 cases

Dr. E. S. Sachs, M. G. J. Jahoda, W. J. Kleijer, L. Pijpers, H. Galjaard, John M. Optiz, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Year:

1988

Language:

english

File:

PDF, 571 KB

english, 1988

31

β-glucuronidase deficiency as a cause of fetal hydrops

M. J. Kagie, W. J. Kleijer, J. G. M. Huijmans, P. Maaswinkel-Mooy, Dr. H. H. H. Kanhai

Journal:

American Journal of Medical Genetics Part A

Year:

1992

Language:

english

File:

PDF, 283 KB

english, 1992

32

Atypical clinical presentation of ataxia telangiectasia

Dr. Patrick J. Willems, Bernadette C. Van Roy, Wim J. Kleijer, Magna Van der Kraan, Jean-Jacques Martin

Journal:

American Journal of Medical Genetics Part A

Year:

1993

Language:

english

File:

PDF, 669 KB

english, 1993

33

Intermittent hair loss in a child with PIBI(D)S syndrome and trichothiodystrophy with defective DNA repair-xeroderma pigmentosum group D

Dr. Wim J. Kleijer, Frits A. Beemer, Bart W. Boom

Journal:

American Journal of Medical Genetics Part A

Year:

1994

Language:

english

File:

PDF, 431 KB

english, 1994

34

Prenatal diagnosis of the urea cycle diseases: A survey of the european cases

Professor P. Kamoun, A. H. Fensom, Y. S. Shin, E. Bakker, J. P. Colombo, A. Munnich, S. Bird, S. Canini, J. G. M. Huijmans, B. Chadefaux-Vekemans, A. E. Whitfield, W. J. Kleijer

Journal:

American Journal of Medical Genetics Part A

Year:

1995

Language:

english

File:

PDF, 430 KB

english, 1995

35

Eleven polish patients with microcephaly, immunodeficiency, and chromosomal instability: The Nijmegen breakage syndrome

K. H. Chrzanowska, W. J. Kleijer, M. Krajewska-Walasek, M. Białecka, A. Gutkowska, B. Goryluk-Kozakiewicz, J. Michałkiewicz, J. Stachowski, H. Gregorek, G. Łysón-Wojciechowska, W. Janowicz, S. Jóźwiak

Journal:

American Journal of Medical Genetics Part A

Year:

1995

Language:

english

File:

PDF, 1012 KB

english, 1995

36

Lymphangiectasia with persistent Müllerian derivatives: Confirmation of autosomal recessive Urioste syndrome

Mieke M. van Haelst, Jeannette Hoogeboom, Robert-Jan H. Galjaard, Wim J. Kleijer, Nicolette S. den Hollander, Ronald R. de Krijger, Raoul C. M. Hennekam, Martinus F. Niermeijer

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 194 KB

english, 2001

37

Twenty-two novel mutations in the lysosomal α-glucosidase gene (GAA) underscore the genotype–phenotype correlation in glycogen storage disease type II

Monique M.P. Hermans, Dik van Leenen, Marian A. Kroos, Clare E. Beesley, Ans T. Van der Ploeg, Hitoshi Sakuraba, Ron Wevers, Wim Kleijer, Helen Michelakakis, Edwin P. Kirk, Janice Fletcher, Nils Bossh

Journal:

Year:

2004

Language:

english

File:

PDF, 282 KB

english, 2004

38

Insertion of a T next to the donor splice site of intron 1 causes aberrantly spliced mRNA in a case of infantile GM1-gangliosidosis

Amelia Morrone, Hans Morreau, Xiao Yan Zhou, Enrico Zammarchi, Wim J. Kleijer, Hans Galjaard, Alessandra d'Azzo

Journal:

Year:

1994

Language:

english

File:

PDF, 1.42 MB

english, 1994

39

Mucopolysaccharidosis type I: Identification of 13 novel mutations of the α-L-iduronidase gene

Susanna Bunge, Wim J. Kleijer, Cordula Steglich, Michael Beck, Eberhard Schwinger, Andreas Gal

Journal:

Year:

1995

Language:

english

File:

PDF, 345 KB

english, 1995

40

A homozygous nonsense mutation in the methylmalonyl-CoA epimerase gene (MCEE) results in mild methylmalonic aciduria

H. Bikker, H.D. Bakker, N.G.G.M. Abeling, B.T. Poll-The, W.J. Kleijer, D.S. Rosenblatt, H.R. Waterham, R.J.A. Wanders, M. Duran

Journal:

Year:

2006

Language:

english

File:

PDF, 195 KB

english, 2006

41

Mutations in the C7orf11 (TTDN1) gene in six nonphotosensitive trichothiodystrophy patients: no obvious genotype–phenotype relationships

Elena Botta, Judith Offman, Tiziana Nardo, Roberta Ricotti, Giovanna Zambruno, Daniela Sansone, Paolo Balestri, Anja Raams, Wim J. Kleijer, Nicolaas G.J. Jaspers, Alain Sarasin, Alan R. Lehmann, Miria

Journal:

Year:

2007

Language:

english

File:

PDF, 192 KB

english, 2007

42

The cystathionine beta-synthase variant c.844_845ins68 protects against CNS demyelination in X-linked adrenoleukodystrophy

Michael Linnebank, Alexander Semmler, Wim J. Kleijer, Marianne L.T. van der Sterre, Jutta Gärtner, Klaus Fliessbach, Piotr Sokolowski, Wolfgang Köhler, Uwe Schlegel, Thomas Klockgether, Ronald J.A. Wa

Journal:

Year:

2006

Language:

english

File:

PDF, 213 KB

english, 2006

43

GM1 gangliosidosis: molecular analysis of nine patients and development of an RT-PCR assay for GLB1 gene expression profiling

Anna Caciotti, Maria Alice Donati, Elena Procopio, Mirella Filocamo, Wim Kleijer, Wim Wuyts, Bettina Blaumeiser, Alessandra d'Azzo, Lisa Simi, Claudio Orlando, Fiona McKenzie, Agata Fiumara, Enrico Za

Journal:

Year:

2007

Language:

english

File:

PDF, 242 KB

english, 2007

44

Repair replication in human cells studied by sodium lodide isopycnic centrifugation of DNA in a fixed-angle rotor

P.H.M. Lohman, M.L. Sluyter, I.A.A. Matthijs, W.J. Kleijer

Journal:

Analytical Biochemistry

Year:

1973

Language:

english

File:

PDF, 568 KB

english, 1973

45

FcγRIIIa-158V/F polymorphism influences the binding of IgG by NK cell FcγRIIIa, independent of the FcγRIIIa-48L/R/H phenotype

Harry R. Koene, Marion Kleijer, Johan Algra, Dirk Roos, Albert E.G.Kr. von dem Bome, Masja de Haas

Journal:

Immunology Letters

Year:

1997

Language:

english

File:

PDF, 350 KB

english, 1997

46

Clinical value of soluble IgG Fc receptor type III (sFcγRIII) in plasma from patients with neutropenia

Harry R. Koene, Masja de Haas, Marion Kleijer, Tom W.J. Huizinga, Dirk Roos, Albert E.G.Kr. von dem Borne

Journal:

Immunology Letters

Year:

1997

Language:

english

File:

PDF, 170 KB

english, 1997

47

NA-phenotype-dependent differences in neutrophil FcγRIIIb expression cause differences in plasma levels of soluble FcγRIII

Harry R. Koene, Masja de Haas, Marion Kleijer, Dirk Roos, Albert E. G. Kr Von Dem Borne

Journal:

British Journal of Haematology

Year:

1996

Language:

english

File:

PDF, 908 KB

english, 1996

48

Homozygous R788W Point Mutation in the XPF Gene of a Patient with Xeroderma Pigmentosum and Late-Onset Neurologic Disease

Sijbers, Anneke M, van Voorst Vader, Pieter C, Snoek, Jos W, Raams, Anja, Jaspers, Nicolaas G J, Kleijer, Wim J

Journal:

The Journal of Investigative Dermatology

Year:

1998

Language:

english

File:

PDF, 260 KB

english, 1998

49

Prenatal diagnosis of citrullinemia and argininosuccinic aciduria: evidence for a transmission ratio distortion in citrullinemia

Wim J. Kleijer, Victor H. Garritsen, Marianne L. T. van der Sterre, Christoph Berning, Johannes Häberle, Jan G. M. Huijmans

Journal:

Prenatal Diagnosis

Year:

2006

Language:

english

File:

PDF, 112 KB

english, 2006

50

Prenatal diagnosis of the Cockayne syndrome: survey of 15 years experience

Wim J. Kleijer, Marianne L. T. van der Sterre, Victor H. Garritsen, Anja Raams, Nicolaas G. J. Jaspers

Journal:

Prenatal Diagnosis

Year:

2006

Language:

english

File:

PDF, 188 KB

english, 2006

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