Ngā hua rapu kaituhi :: APM

1

X-linked hypercalciuric nephrolithiasis: Clinical syndromes and chloride channel mutations mā Steven J. Scheinman

I whakaputaina 1998

Whiwhi kuputuhi katoa
Revisão

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2

Mapping the gene causing X-linked recessive nephrolithiasis to Xp11.22 by linkage studies. mā Steven J. Scheinman, Mark A. Pook, C Wooding, J T Pang, Paul A. Frymoyer, Rajesh V. Thakker

I whakaputaina 1993

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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3

X-Linked Recessive Nephrolithiasis with Renal Failure mā Paul A. Frymoyer, Steven J. Scheinman, Philip B. Dunham, David B. Jones, Paul Hueber, E. Todd Schroeder

I whakaputaina 1991

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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4

Evidence for genetic heterogeneity in Dent's disease mā R R Hoopes, Khalid Mehmood Raja, April Koich, Paul Hueber, Robert J. Reid, Stephen J. Knohl, Steven J. Scheinman

I whakaputaina 2004

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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5

Tubular proteinuria defined by a study of Dent's (CLCN5 mutation) and other tubular diseases mā Anthony G.W. Norden, Steven J. Scheinman, M Deschodt-Lanckman, Marta Lapsley, Joëlle Nortier, Rajesh V. Thakker, Robert J. Unwin, Oliver Wrong

I whakaputaina 2000

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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6

Altered polarity and expression of H+-ATPase without ultrastructural changes in kidneys of Dent's disease patients mā Pierre Moulin, Takashi Igarashi, Patrick Van Deŕ Smissen, Jean‐Pierre Cosyns, P Verroust, Rajesh V. Thakker, Steven J. Scheinman, Pierre J. Courtoy, Olivier Devuyst

I whakaputaina 2003

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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7

Glomerular protein sieving and implications for renal failure in Fanconi syndrome mā Anthony G.W. Norden, Marta Lapsley, Philip Lee, Charles D. Pusey, Steven J. Scheinman, Frederick W.K. Tam, Rajesh V. Thakker, Robert J. Unwin, Oliver Wrong

I whakaputaina 2001

Whiwhi kuputuhi katoa
Artigo

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8

Responsiveness of Hypercalciuria to Thiazide in Dent’s Disease mā Khalid A Raja, Scott J. Schurman, Richard D’Mello, Douglas L. Blowey, Paul Goodyer, Scott Van Why, Robert Ploutz‐Snyder, John R. Asplin, Steven J. Scheinman

I whakaputaina 2002

Whiwhi kuputuhi katoa
Artigo

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9

Characterization of carrier females and affected males with X-linked recessive nephrolithiasis. mā Scott C. Reinhart, Anthony G.W. Norden, M Lapsley, Rajesh V. Thakker, Jun Pang, Arnold M. Moses, Paul A. Frymoyer, Murray J. Favus, John A. Hoepner, Steven J. Scheinman

I whakaputaina 1995

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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10

Dent Disease with Mutations in OCRL1 mā R R Hoopes, Antony E. Shrimpton, Stephen J. Knohl, Paul Hueber, Bernd Höppe, János Mátyus, Ari M. Simckes, Velibor Tasic, Burkhard Toenshoff, Sharon F. Suchy, Robert L. Nussbaum, Steven J. Scheinman

I whakaputaina 2005

Whiwhi kuputuhi katoa
Artigo

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11

A Cluster of Metabolic Defects Caused by Mutation in a Mitochondrial tRNA mā Frederick H. Wilson, Ali Hariri, Anita Farhi, Hongyu Zhao, Kitt Falk Petersen, Hakan R. Toka, Carol Nelson‐Williams, Khalid Mehmood Raja, Michael Kashgarian, Gerald I. Shulman, Steven J. Scheinman, Richard P. Lifton

I whakaputaina 2004

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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12

Urinary Megalin Deficiency Implicates Abnormal Tubular Endocytic Function in Fanconi Syndrome mā Anthony G.W. Norden, Marta Lapsley, Takashi Igarashi, Catherine L. Kelleher, Philip Lee, Takeshi Matsuyama, Steven J. Scheinman, Hiroshi Shiraga, David P. Sundin, Rajesh V. Thakker, Robert J. Unwin, P Verroust, Søren K. Moestrup

I whakaputaina 2002

Whiwhi kuputuhi katoa
Artigo

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13

Glomerular Pathology in Dent Disease and Its Association with Kidney Function mā Xiangling Wang, Franca Anglani, Lada Beara‐Lasić, Anila Mehta, Lisa E. Vaughan, Loren Herrera Hernandez, Andrea G. Cogal, Steven J. Scheinman, Gema Ariceta, Robert T. Isom, Lawrence Copelovitch, Felicity Enders, Dorella Del Prete, Giuseppe Vezzoli, Fabio Paglialonga, Peter C. Harris, John C. Lieske

I whakaputaina 2016

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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14

Variable Clinical Presentation of an MUC1 Mutation Causing Medullary Cystic Kidney Disease Type 1 mā Anthony J. Bleyer, Stanislav Kmoch, Corinne Antignac, Vicki Robins, Kendrah Kidd, John R. Kelsoe, Gerald A. Hladik, Philip J. Klemmer, Stephen J. Knohl, Steven J. Scheinman, Nam S. Vo, Ann Santi, Alese Harris, Omar Canaday, Nelson Weller, Peter J. Hulick, Kristen J. Vogel, Frederic F. Rahbari-Oskoui, Jennifer Tuazon, Constantinos Deltas, Douglas Somers, André Mégarbané, Paul L. Kimmel, C. John Sperati, Avi Orr‐Urtreger, Shay Ben‐Shachar, David A. Waugh, Stella McGinn, Anthony J. Bleyer, Kateřina Hodaňová, Petr Vyleťal, Martina Živná, Thomas C. Hart, P. Suzanne Hart

I whakaputaina 2014

Whiwhi kuputuhi katoa
Artigo

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15

Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing mā Andrew Kirby, Andreas Gnirke, David B. Jaffe, Veronika Barešová, Nathalie Pochet, Brendan Blumenstiel, Chun Ye, Daniel Aird, Christine Stevens, James Robinson, Moran N. Cabili, Irit Gat‐Viks, Edward Kelliher, Riza M. Daza, Matthew DeFelice, Helena Hůlková, Jana Sovová, Petr Vyleťal, Corinne Antignac, Mitchell Guttman, Robert E. Handsaker, Danielle Perrin, Scott Steelman, Snævar Sigurðsson, Steven J. Scheinman, Carrie Sougnez, Kristian Cibulskis, Melissa Parkin, Todd J. Green, Elizabeth J. Rossin, Michael C. Zody, Ramnik J. Xavier, Martin R. Pollak, Seth L. Alper, Kerstin Lindblad‐Toh, Stacey B. Gabriel, P. Suzanne Hart, Aviv Regev, Chad Nusbaum, Stanislav Kmoch, Anthony J. Bleyer, Eric S. Lander, Mark J. Daly

I whakaputaina 2013

Whiwhi kuputuhi katoa
Artigo

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16

Nephrocalcinosis (Enamel Renal Syndrome) Caused by Autosomal Recessive FAM20A Mutations mā Graciana Jaureguiberry, Muriel De La Dure‐Molla, David Parry, Mickaël Quentric, Nina Himmerkus, Toshiyasu Koike, James A. Poulter, Enriko Klootwijk, Steven L. Robinette, Alexander J. Howie, Vaksha Patel, Marie-Lucile Figueres, Horia Stanescu, Naomi Issler, Jeremy K. Nicholson, Detlef Böckenhauer, Christopher Laing, Stephen B. Walsh, David A. McCredie, Sue Povey, Audrey Asselin, Arnaud Picard, Aurore Coulomb, Alan Medlar, Isabelle Bailleul‐Forestier, Alain Verloès, Cédric Le Caignec, G. Roussey, J. Guiol, Bertrand Isidor, Clare V. Logan, Richard F. Shore, Colin A. Johnson, C.F. Inglehearn, Suhaila Al‐Bahlani, Matthieu Schmittbuhl, François Clauss, Mathilde Huckert, Virginie Laugel, Emmanuelle Ginglinger, Sandra Pajarola, Giuseppina Spartà, Deborah Bartholdi, Anita Rauch, Marie-Claude Addor, Paulo Márcio Yamaguti, H.P.N. Safatle, Ana Carolina Acevedo, Hercílio Martelli‐Júnior, Pedro E. dos Santos Netos, Ricardo D. Coletta, Sandra Gruessel, Carolin Sandmann, Denise Ruehmann, Craig B. Langman, Steven J. Scheinman, Didem Özdemır, Thomas C. Hart, P. Suzanne Hart, Ute Neugebauer, Eberhard Schlatter, Pascal Houillier, William A. Gahl, Miikka Vikkula, Agnès Bloch‐Zupan, Markus Bleich, Hiroshi Kitagawa, Robert J. Unwin, Alan J. Mighell, Ariane Berdal, Robert Kleta

I whakaputaina 2013

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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