Ngā hua rapu kaituhi :: APM

1

Mutation detection by denaturing gradient gel electrophoresis (DGGE) mā Riccardo Fodde, Monique Losekoot

I whakaputaina 1994

Whiwhi kuputuhi katoa
Revisão

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2

EMQN/CMGS best practice guidelines for the molecular genetic testing of Huntington disease mā Monique Losekoot, Martine J. van Belzen, Sara Seneca, Peter Bauer, S Stenhouse, David Barton

I whakaputaina 2012

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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3

MECHANISMS IN ENDOCRINOLOGY: Novel genetic causes of short stature mā Jan M. Wit, Wilma Oostdijk, Monique Losekoot, Hermine A. van Duyvenvoorde, Claudia Ruivenkamp, Sarina G. Kant

I whakaputaina 2015

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Revisão

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4

Proteomics of Urinary Vesicles Links Plakins and Complement to Polycystic Kidney Disease mā Mahdi Salih, Jeroen Demmers, Karel Bezstarosti, Wouter N. Leonhard, Monique Losekoot, Cees van Kooten, Ron T. Gansevoort, Dorien J.M. Peters, Robert Zietse, Ewout J. Hoorn

I whakaputaina 2016

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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5

Hereditary Nonpolyposis Colorectal Cancer Families Not Complying with the Amsterdam Criteria Show Extremely Low Frequency of Mismatch-Repair-Gene Mutations mā Juul Wijnen, P. Meera Khan, Hans F. A. Vasen, Heleen van der Klift, Adri Mulder, Inge van Leeuwen‐Cornelisse, Egbert Bakker, Monique Losekoot, Pål Møller, Riccardo Fodde

I whakaputaina 1997

Whiwhi kuputuhi katoa
Artigo

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6

Phenotypic Features and Response to GH Treatment of Patients With a Molecular Defect of the IGF-1 Receptor mā M.J.E. Walenkamp, Jasmijn M L Robers, Jan M. Wit, Gladys R.J. Zandwijken, Hermine A. van Duyvenvoorde, Wilma Oostdijk, Anita Hokken-Koelega, Sarina G. Kant, Monique Losekoot

I whakaputaina 2019

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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7

Detecting<i>PKD1</i>variants in polycystic kidney disease patients by single-molecule long-read sequencing mā Daniel Borràs, Rolf H. A. M. Vossen, Michael Liem, Henk P.J. Buermans, Hans G. Dauwerse, Dave van Heusden, Ron T. Gansevoort, Johan T. den Dunnen, Bart Janssen, Dorien J.M. Peters, Monique Losekoot, Seyed Yahya Anvar

I whakaputaina 2017

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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8

An<i>XRCC4</i>Splice Mutation Associated With Severe Short Stature, Gonadal Failure, and Early-Onset Metabolic Syndrome mā Christiaan de Bruin, Verónica Mericq, Shayne F. Andrew, Hermine A. van Duyvenvoorde, Nicole S. Verkaik, Monique Losekoot, Aleksey Porollo, Hernán García, Yi Kuang, Dan Hanson, Peter Clayton, Dik C. van Gent, Jan M. Wit, Vivian Hwa, Andrew Dauber

I whakaputaina 2015

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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9

Short Stature Associated with a Novel Heterozygous Mutation in the<i>Insulin-Like Growth Factor 1</i>Gene mā Hermine A. van Duyvenvoorde, P.A. van Setten, M.J.E. Walenkamp, J. van Doorn, Jens Koenig, Lisbeth Gauguin, Wilma Oostdijk, Claudia Ruivenkamp, Monique Losekoot, John D. Wade, Pierre De Meyts, Marcel Karperien, C. Noordam, Jan M. Wit

I whakaputaina 2010

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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10

Successful Long-Term Growth Hormone Therapy in a Girl with Haploinsufficiency of the Insulin-Like Growth Factor-I Receptor due to a Terminal 15q26.2-&gt;qter Deletion Detected... mā M.J.E. Walenkamp, Sabine M.P.F. de Muinck Keizer‐Schrama, Marianne de Mos, M.E. Kalf, Hermine A. van Duyvenvoorde, Annemieke M. Boot, Sarina G. Kant, Stefan J. White, Monique Losekoot, Johan T. den Dunnen, Marcel Karperien, Jan M. Wit

I whakaputaina 2008

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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11

Novel Leptin Receptor Mutations Identified in Two Girls with Severe Obesity Are Associated with Increased Bone Mineral Density mā Sabine E Hannema, Jan M. Wit, Mieke E.C.A.M. Houdijk, Arie van Haeringen, Elsa C. Bik, Annemieke J.M.H. Verkerk, André G. Uitterlinden, Sarina G. Kant, Wilma Oostdijk, Egbert Bakker, Henriëtte A. Delemarre‐van de Waal, Monique Losekoot

I whakaputaina 2016

Whiwhi kuputuhi katoa
Artigo

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12

IGSF1 Deficiency: Lessons From an Extensive Case Series and Recommendations for Clinical Management mā Sjoerd D. Joustra, Charlotte A. Heinen, Nadia Schoenmakers, Marco Bonomi, Bart E.P.B. Ballieux, Marc‐Olivier Turgeon, Daniel J. Bernard, Eric Fliers, A.S. Paul van Trotsenburg, Monique Losekoot, Luca Persani, Jan M. Wit, Nienke R. Biermasz, Alberto M. Pereira, Wilma Oostdijk

I whakaputaina 2016

Whiwhi kuputuhi katoa
Artigo

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13

PAPSS2 Deficiency Causes Androgen Excess via Impaired DHEA Sulfation—In Vitro and in Vivo Studies in a Family Harboring Two Novel PAPSS2 Mutations mā Wilma Oostdijk, Jan Idkowiak, Jonathan Wolf Mueller, Philip J House, Angela E. Taylor, Michael O’Reilly, Beverly Hughes, Martine C. de Vries, Sarina G. Kant, Gijs W.E. Santen, Annemieke J.M.H. Verkerk, André G. Uitterlinden, Jan M. Wit, Monique Losekoot, Wiebke Arlt

I whakaputaina 2015

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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14

A novel variant of FGFR3 causes proportionate short stature mā Sarina G. Kant, Iveta Cervenkova, Lukáš Bálek, Lukáš Trantı́rek, Gijs W.E. Santen, Martine C. de Vries, Hermine A. van Duyvenvoorde, Michiel J.R. van der Wielen, Annemieke J.M.H. Verkerk, André G. Uitterlinden, Sabine E Hannema, Jan M. Wit, Wilma Oostdijk, Pavel Krejčı́, Monique Losekoot

I whakaputaina 2015

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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15

Reduced penetrance alleles for Huntington's disease: a multi-centre direct observational study mā Oliver Quarrell, Alan S. Rigby, L Barron, Yanick J. Crow, A. Dalton, N R Dennis, Alan Fryer, Frances Heydon, Esther Kinning, Alison Lashwood, Monique Losekoot, L Margerison, Shannon K. McDonnell, Patrick J. Morrison, Andrew Norman, Michael Peterson, F. Lucy Raymond, Sharon Simpson, Elizabeth Thompson, Jon Warner

I whakaputaina 2006

Whiwhi kuputuhi katoa
Carta

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16

Autosomal Recessive Spinocerebellar Ataxia 7 (SCAR7) is Caused by Variants in<i>TPP1</i>, The Gene Involved in Classic Late-Infantile Neuronal Ceroid Lipofuscinosis 2 Disease (CLN2... mā Yu Sun, Rowida Almomani, Guido J. Breedveld, Gijs W.E. Santen, Emmelien Aten, Dirk J. Lefeber, Jorrit I. Hoff, Esther Brusse, Frans W. Verheijen, Robert M. Verdijk, Marjolein Kriek, Ben A. Oostra, Martijn H. Breuning, Monique Losekoot, Johan T. den Dunnen, Bart P. van de Warrenburg, Anneke Maat‐Kievit

I whakaputaina 2013

Whiwhi kuputuhi katoa
Artigo

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17

An Activating Mutation in the Kinase Homology Domain of the Natriuretic Peptide Receptor-2 Causes Extremely Tall Stature Without Skeletal Deformities mā Sabine E Hannema, Hermine A. van Duyvenvoorde, Thomas Premsler, Ruey‐Bing Yang, Thomas D. Mueller, Birgit Gaßner, Heike Oberwinkler, Ferdinand Roelfsema, Gijs W.E. Santen, Timothy C. R. Prickett, Sarina G. Kant, Annemieke J.M.H. Verkerk, André G. Uitterlinden, Eric A. Espiner, Claudia Ruivenkamp, Wilma Oostdijk, Alberto M. Pereira, Monique Losekoot, Michaela Kühn, Jan M. Wit

I whakaputaina 2013

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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18

Copy number variants in patients with short stature mā Hermine A. van Duyvenvoorde, Julian C. Lui, Sarina G. Kant, Wilma Oostdijk, Antoinet C.J. Gijsbers, Mariëtte J.V. Hoffer, Marcel Karperien, M.J.E. Walenkamp, C. Noordam, Paul G. Voorhoeve, Verónica Mericq, Alberto M. Pereira, Hedi L Claahsen-van de Grinten, Sandy A. van Gool, Martijn H. Breuning, Monique Losekoot, Jeffrey Baron, Claudia Ruivenkamp, Jan M. Wit

I whakaputaina 2013

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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19

Mutations in <i>TBL1X</i> Are Associated With Central Hypothyroidism mā Charlotte A. Heinen, Monique Losekoot, Yu Sun, Peter J. Watson, Louise Fairall, Sjoerd D. Joustra, Nitash Zwaveling‐Soonawala, Wilma Oostdijk, Erica L T van den Akker, Mariëlle Alders, Gijs W.E. Santen, Rick R. van Rijn, Wouter A. Dreschler, Olga V. Surovtseva, Nienke R. Biermasz, Raoul C. M. Hennekam, Jan M. Wit, John W. R. Schwabe, Anita Boelen, Eric Fliers, A.S. Paul van Trotsenburg

I whakaputaina 2016

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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20

Effect of Lanreotide on Kidney Function in Patients With Autosomal Dominant Polycystic Kidney Disease mā Esther Meijer, Folkert W. Visser, R. Aerts, Charles J. Blijdorp, Niek F. Casteleijn, Hedwig M. A. D‘Agnolo, Shosha E.I. Dekker, Joost P.H. Drenth, Johan W. de Fijter, Maatje D.A. van Gastel, Tom J.G. Gevers, Marten A. Lantinga, Monique Losekoot, A. Lianne Messchendorp, Myrte K. Neijenhuis, Michelle J. Pena, Dorien J.M. Peters, Mahdi Salih, Darius Soonawala, Edwin M. Spithoven, Jack F.M. Wetzels, Robert Zietse, Ron T. Gansevoort

I whakaputaina 2018

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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