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51

Massively parallel sequencing of ataxia genes after array-based enrichment

Alexander Hoischen, Christian Gilissen, Peer Arts, Nienke Wieskamp, Walter van der Vliet, Sascha Vermeer, Marloes Steehouwer, Petra de Vries, Rowdy Meijer, Jorge Seiqueros, Nine V.A.M. Knoers, Michael

Journal:

Year:

2010

Language:

english

File:

PDF, 526 KB

english, 2010

52

Discovery of aquaporins: a breakthrough in research on renal water transport

Angenita F. Lieburg, Nine V. A. M. Knoers, Peter M. T. Deen

Journal:

Pediatric Nephrology

Year:

1995

Language:

english

File:

PDF, 835 KB

english, 1995

53

Evidence for intact V1-vasopressin receptors in congenital nephrogenic diabetes insipidus

N. Knoers, P. M. W. Janssens, J. Goertz, L. A. H. Monnens

Journal:

European Journal of Pediatrics

Year:

1992

Language:

english

File:

PDF, 311 KB

english, 1992

54

Partial iris hypoplasia in a patient with an interstitial subtelomeric 6p deletion not including the forkhead transcription factor gene FOXC1

Koolen, David A, Knoers, Nine V A M, Nillesen, Willy M, Slabbers, Gordon H P R, Smeets, Dominique, de Leeuw, Nicole, Sistermans, Erik A, de Vries, Bert B A

Journal:

European Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 80 KB

english, 2005

55

Plasma levels of von Willebrand factor, von Willebrand factor propeptide and factor VIII in carriers and patients with nephrogenic diabetes insipidus

A. Yaël Nossent, Johanne H. Ellenbroek, Marijke Frölich, Rogier M. Bertina, Nine V.A.M. Knoers, Jeroen C.J. Eikenboom

Journal:

Thrombosis Research

Year:

2010

Language:

english

File:

PDF, 96 KB

english, 2010

56

A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndrome

de Munnik, Sonja A, García-Miñaúr, Sixto, Hoischen, Alexander, van Bon, Bregje W, Boycott, Kym M, Schoots, Jeroen, Hoefsloot, Lies H, Knoers, Nine VAM, Bongers, Ernie MHF, Brunner, Han G

Journal:

European Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 303 KB

english, 2014

57

Physiology and pathophysiology of the aquaporin-2 water channel

Deer, Peter M.T., Knoers, Nine V.A.M.

Journal:

Current Opinion in Nephrology & Hypertension

Year:

1998

File:

PDF, 3.75 MB

1998

58

Six uneventful pregnancy outcomes in an extended vascular Ehlers-Danlos syndrome family

Baas, Annette F., Spiering, Wilko, Moll, Frans L., Page-Christiaens, Lieve, Beenakkers, Ingrid C. M., Dooijes, Dennis, Vonken, Evert-Jan P. A., van der Smagt, Jasper J., Knoers, Nine V., Koenen, Steve

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 1.67 MB

english, 2016

59

Whole-exome sequencing in intellectual disability; cost before and after a diagnosis

Vrijenhoek, Terry, Middelburg, Eline M., Monroe, Glen R., van Gassen, Koen L. I., Geenen, Joost W., Hövels, Anke M., Knoers, Nine V., van Amstel, Hans Kristian Ploos, Frederix, Gerardus W. J.

Journal:

European Journal of Human Genetics

Year:

2018

Language:

english

File:

PDF, 387 KB

english, 2018

60

Advocacy as a professional obligation: Practical application

Knoer, Scott, Fox, Erin R

Journal:

American Journal of Health-System Pharmacy

Year:

2020

Language:

english

File:

PDF, 125 KB

english, 2020

61

Dominant Isolated Renal Magnesium Loss Is Caused by Misrouting of the Na+,K+-ATPase γ-Subunit

IWAN C. MEIJ, JAN B. KOENDERINK, JOKE C. DE JONG, JAN JOEP H. H. M. DE PONT, LEO A. H. MONNENS, LAMBERT P. W. J. VAN DEN HEUVEL, NINE V. A. M. KNOERS

Journal:

Annals of the New York Academy of Sciences

Year:

2003

File:

PDF, 1.49 MB

2003

62

Requirement of human renal water channel aquaporin-2 for vasopressin-dependent concentration of urine

Deen, P., Verdijk, M., Knoers, N., Wieringa, B, Monnens, L., van Os, C., van Oost, B.

Journal:

Year:

1994

Language:

english

File:

PDF, 1.23 MB

english, 1994

63

Functional rescue of vasopressin V2 receptor mutants in MDCK cells by pharmacochaperones: relevance to therapy of nephrogenic diabetes insipidus

Robben, J. H., Sze, M., Knoers, N. V. A. M., Deen, P. M. T.

Journal:

AJP Renal Physiology

Year:

2006

Language:

english

File:

PDF, 369 KB

english, 2006

64

Evaluating PVALB as a candidate gene for SLC12A3-negative cases of Gitelman's syndrome

Riveira-Munoz, E., Devuyst, O., Belge, H., Jeck, N., Strompf, L., Vargas-Poussou, R., Jeunemaitre, X., Blanchard, A., Knoers, N. V., Konrad, M., Dahan, K.

Journal:

Nephrology Dialysis Transplantation

Year:

2008

Language:

english

File:

PDF, 157 KB

english, 2008

65

Pharmacy informatics in multihospital health systems: Opportunities and challenges

Chalmers, Jeffrey, Siska, Mark, Le, Trinh, Knoer, Scott

Journal:

American Journal of Health-System Pharmacy

Year:

2018

Language:

english

File:

PDF, 201 KB

english, 2018

66

Weâre ready to fight and weâre playing to win

Knoer, Scott J.

Journal:

Year:

2020

File:

PDF, 1.73 MB

2020

67

Team Pharmacy took on PBMs at the U.S. Supreme Court

Knoer, Scott J.

Journal:

Year:

2020

File:

PDF, 312 KB

2020

68

Physiology and pathophysiology of aquaporins

S. M. MULDERS, A. F. VAN LIEBURG, L. A. H. MONNENS, N. V. A. M. KNOERS, P. M. T. DEEN, C. H. VAN OS

Journal:

European Journal of Clinical Investigation

Year:

1996

Language:

english

File:

PDF, 945 KB

english, 1996

69

Clinical phenotype of nephrogenic diabetes insipidus in females heterozygous for a vasopressin type 2 receptor mutation

Angenita F. Lieburg, Marian A. J. Verdijk, Frans Schoute, Marjolijn J. L. Ligtenberg, Bernard A. Oost, Franz Waldhauser, Maria Dobner, Leo A. H. Monnens, Nine V. A. M. Knoers

Journal:

Year:

1995

Language:

english

File:

PDF, 719 KB

english, 1995

70

Linkage of Gitelman syndrome to the thiazide-sensitive sodium-chloride cotransporter gene with identification of mutations in Dutch families

Henny H. Lemmink, Lambert P. W. J. van den Heuvel, Henk A. van Dijk, Gerard F. M. Merkx, Tineke J. Smilde, Peter E. M. Taschner, Leo A. H. Monnens, Steve C. Hebert, Nine V. A. M. Knoers

Journal:

Pediatric Nephrology

Year:

1996

Language:

english

File:

PDF, 1.90 MB

english, 1996

71

10.1038/81543

Knoers, Nine V.A.M., Meij, Iwan C., Koenderink, Jan B., van Bokhoven, Hans, Assink, Karin F.H., Tiel Groenestege, Wouter, de Pont, Jan Joep H.H.M., Bindels, René J.M., Monnens, Leo A.H., van den Heuve

Journal:

Nature Genetics

Year:

2000

Language:

english

File:

PDF, 719 KB

english, 2000

72

Molecular cytogenetic detection of 9q34 breakpoints associated with nail patella syndrome

Silahtaroglu, Asli, Hol, Frans A, Jensen, Peter KA, Erdel, Martin, Duba, Hans-Christoph, Geurds, Monique PA, Knoers, Nine VAM, Mariman, Edwin CM, Tümer, Zeynep, Utermann, Gerd

Journal:

European Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 390 KB

english, 1999

73

Urine osmolality, cyclic AMP and aquaporin-2 in urine of patients under lithium treatment in response to water loading followed by vasopressin administration

Ingeborg Wilting, Ruben Baumgarten, Kris L.L. Movig, Jan van Laarhoven, Alfred J. Apperloo, Willem A. Nolen, Eibert R. Heerdink, Nine V.A.M. Knoers, Antoine C.G. Egberts

Journal:

European Journal of Pharmacology

Year:

2007

Language:

english

File:

PDF, 289 KB

english, 2007

74

Spinocerebellar ataxias in the Netherlands: Prevalence and age at onset variance analysis

van de Warrenburg, B.P.C., Sinke, R.J., Verschuuren-Bemelmans, C.C., Scheffer, H., Brunt, E.R., Ippel, P.F., Maat-Kievit, J.A., Dooijes, D., Notermans, N.C., Lindhout, D., Knoers, N.V.A.M., Kremer, H.

Journal:

Year:

2002

Language:

english

File:

PDF, 153 KB

english, 2002

75

Autosomal Recessive Nephrogenic Diabetes Insipidus Caused by an Aquaporin-2 Mutation*

Hochberg, Ze’ev, van Lieburg, Anita, Even, Lea, Brenner, Benjamin, Lanir, Naomi, van Oost, Bernard A., Knoers, Nine V.A.M.

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

1997

File:

PDF, 938 KB

1997

76

Aquaporin molecular biology and clinical abnormalities of the water transport channels

Knoers, Nine V.A.M., Deen, Peter M.T.

Journal:

Current Opinion in Pediatrics

Year:

1998

File:

PDF, 641 KB

1998

77

Further delineation of the GDF6 related multiple synostoses syndrome

Terhal, Paulien A., Verbeek, Nienke E., Knoers, Nine, Nievelstein, Rutger J. A. J., van den Ouweland, Ans, Sakkers, Ralph J., Speleman, Lucienne, van Haaften, Gijs

Journal:

American Journal of Medical Genetics Part A

Year:

2017

Language:

english

File:

PDF, 581 KB

english, 2017

78

Cognitive and psychosocial functioning of patients with congenital nephrogenic diabetes insipidus

Hoekstra, J. A., van Lieburg, A. F., Monnens, L. A. H., Hulstijn-Dirkmaat, G. M., Knoers, V. V. A. M.

Journal:

American Journal of Medical Genetics

Year:

1996

File:

PDF, 864 KB

1996

79

Clinical utility gene card for: Gitelman syndrome

Knoers, Nine VAM, Devuyst, Olivier, Kamsteeg, Erik-Jan

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 163 KB

english, 2011

80

Maternal And Paternal Risk Factors For Anorectal Malformations

Iris VAN ROOIJ, Paul RIEU, Hester HENDRIKS, Marijn BROUWERS, Ivo DE BLAAUW, Nine KNOERS, Nel ROELEVELD

Journal:

Journal of Pediatric Urology

Year:

2009

Language:

english

File:

PDF, 37 KB

english, 2009

81

Genetics of hypospadias

Loes VAN DER ZANDEN Wout FEITZ∗, Robert DE GIER∗, Iris VAN ROOIJ, Nine KNOERS†, Nel ROELEVELD, Barbara FRANKE‡

Journal:

Journal of Pediatric Urology

Year:

2007

Language:

english

File:

PDF, 37 KB

english, 2007

82

New molecular players facilitating Mg2+ reabsorption in the distal convoluted tubule

Glaudemans, Bob, Knoers, Nine V A M, Hoenderop, Joost G J, Bindels, René J M

Journal:

Kidney International

Year:

2010

Language:

english

File:

PDF, 271 KB

english, 2010

83

The Structural Unit of the Thiazide-sensitive NaCl Cotransporter Is a Homodimer

de Jong, J. C., Willems, P. H. G. M., Mooren, F. J. M., van den Heuvel, L. P. W. J., Knoers, N. V. A. M., Bindels, R. J. M.

Journal:

Journal of Biological Chemistry

Year:

2003

Language:

english

File:

PDF, 684 KB

english, 2003

84

Novel perspectives for investigating congenital anomalies of the kidney and urinary tract (CAKUT)

Renkema, K. Y., Winyard, P. J., Skovorodkin, I. N., Levtchenko, E., Hindryckx, A., Jeanpierre, C., Weber, S., Salomon, R., Antignac, C., Vainio, S., Schedl, A., Schaefer, F., Knoers, N. V. A. M., Bong

Journal:

Nephrology Dialysis Transplantation

Year:

2011

Language:

english

File:

PDF, 263 KB

english, 2011

85

Effects of chemical chaperones on partially retarded NaCl cotransporter mutants associated with Gitelman's syndrome in a mouse cortical collecting duct cell line

de Jong, J. C., Willems, P. H. G. M., Goossens, M., Vandewalle, A., van den Heuvel, L. P. W. J., Knoers, N. V. A. M., Bindels, R. J. M.

Journal:

Nephrology Dialysis Transplantation

Year:

2004

Language:

english

File:

PDF, 322 KB

english, 2004

86

Job Matching with Heterogeneous Firms and Workers

Vincent P. Crawford and Elsie Marie Knoer

Journal:

Year:

1981

Language:

english

File:

PDF, 1.49 MB

english, 1981

87

RD-Connect, NeurOmics and EURenOmics: collaborative European initiative for rare diseases

Lochmüller, Hanns, Badowska, Dorota M., Thompson, Rachel, Knoers, Nine V., Aartsma-Rus, Annemieke, Gut, Ivo, Wood, Libby, Harmuth, Tina, Durudas, Andre, Graessner, Holm, Schaefer, Franz, Riess, Olaf

Journal:

European Journal of Human Genetics

Year:

2018

Language:

english

File:

PDF, 853 KB

english, 2018

88

Healing the pain of racial oppression canât wait

Knoer, Scott J.

Journal:

Year:

2020

File:

PDF, 1.71 MB

2020

89

âItâs the economyâ: Addressing the wages, responsibilities, and education of pharmacy technicians

Hintzen, Barbara, Doss-DuPree, Devan Carter, McNulty, Tara, Knoer, Scott

Journal:

American Journal of Health-System Pharmacy

Year:

2020

File:

PDF, 324 KB

2020

90

Human syndromes with congenital patellar anomalies and the underlying gene defects

EMHF Bongers, A Van Kampen, H Van Bokhoven, NVAM Knoers

Journal:

Clinical Genetics

Year:

2005

Language:

english

File:

PDF, 12.66 MB

english, 2005

91

Dry beneficiation of high loss-on-ignition fly ash

Y Soong, M.R Schoffstall, M.L Gray, J.P Knoer, K.J Champagne, R.J Jones, D.J Fauth

Journal:

Separation and Purification Technology

Year:

2002

Language:

english

File:

PDF, 131 KB

english, 2002

92

Focus on Molecules: RPGRIP1

Heleen H. Arts, Frans P.M. Cremers, Nine V.A.M. Knoers, Ronald Roepman

Journal:

Experimental Eye Research

Year:

2009

Language:

english

File:

PDF, 115 KB

english, 2009

93

Congenital nephrogenic diabetes insipidus: the current state of affairs

Wesche, Daniel, Deen, Peter M. T., Knoers, Nine V. A. M.

Journal:

Pediatric Nephrology

Year:

2012

Language:

english

File:

PDF, 850 KB

english, 2012

94

Early presentation of cystic kidneys in a family with a homozygous INVS mutation

Oud, Machteld M., van Bon, Bregje W., Bongers, Ernie M. H. F., Hoischen, Alexander, Marcelis, Carlo L., de Leeuw, Nicole, Mol, Suzanne J. J., Mortier, Geert, Knoers, Nine V. A. M., Brunner, Han G., Ro

Journal:

American Journal of Medical Genetics Part A

Year:

2014

Language:

english

File:

PDF, 841 KB

english, 2014

95

Decomposition of Coal Model Compounds During Simulated Chemical Coal Cleaning with Molten Hydroxides

NOWAK, MICHAEL A., UTZ, BRUCE R., FAUTH, DANIEL J., FRIEDMAN, SIDNEY, KNOER, JAMES P., GESSNER, NANCY

Journal:

Coal Preparation

Year:

1989

Language:

english

File:

PDF, 463 KB

english, 1989

96

Strategies for success in implementing practice model change

Journal:

American Journal of Health-System Pharmacy

Year:

2011

Language:

english

File:

PDF, 128 KB

english, 2011

97

Pharmacy practice model for academic medical centers

Bush, P. W., Ashby, D. M., Guharoy, R., Knoer, S., Rough, S., Stevenson, J. G., Wiest, M.

Journal:

American Journal of Health-System Pharmacy

Year:

2010

Language:

english

File:

PDF, 124 KB

english, 2010

98

A Single-Base Mutation in the Peroxisome Proliferator-Activated Receptor γ4 Promoter Associated with Altered in Vitro Expression and Partial Lipodystrophy

Al-Shali, Khalid, Cao, Henian, Knoers, Nine, Hermus, Ad R., Tack, Cees J., Hegele, Robert A.

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2004

Language:

english

File:

PDF, 202 KB

english, 2004

99

Sox11 gene disruption causes congenital anomalies of the kidney and urinary tract (CAKUT)

Neirijnck, Yasmine, Reginensi, Antoine, Renkema, Kirsten Y., Massa, Filippo, Kozlov, Vladimir M., Dhib, Haroun, Bongers, Ernie MHF, Feitz, Wout F., van Eerde, Albertien M., Lefebvre, Veronique, Knoers

Journal:

Kidney International

Year:

2018

Language:

english

File:

PDF, 2.97 MB

english, 2018

100

Genetics-first approach improves diagnostics of ESKD patients younger than 50 years

Snoek, Rozemarijn, van Jaarsveld, Richard H, Nguyen, Tri Q, Peters, Edith D J, Elferink, Martin G, Ernst, Robert F, Rookmaaker, Maarten B, Lilien, Marc R, Spierings, Eric, Goldschmeding, Roel, Knoers,

Journal:

Nephrology Dialysis Transplantation

Year:

2020

File:

PDF, 591 KB

2020

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