Utsch, Boris: search on Z-Library

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1

Estimated Glomerular Filtration Rates Calculated by New and Old Equations in Children and Adolescents With Type 1 DiabetesâWhat to Do With the Results?

Boettcher, Claudia, Utsch, Boris, Galler, Angela, Grasemann, Corinna, Borkenstein, Martin, Denzer, Christian, Heidtmann, Bettina, Tittel, Sascha R., Holl, Reinhard W.

Journal:

Frontiers in Endocrinology

Year:

2020

File:

PDF, 2.85 MB

2020

2

Dent disease-like phenotype and the chloride channel ClC-4 (CLCN4) gene

Michael Ludwig, Boris Utsch

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 35 KB

english, 2004

3

Urinalysis in Children and Adolescents

Utsch, Boris, Klaus, Günter

Journal:

Deutsches "{A}rzteblatt international

Year:

2014

Language:

english

File:

PDF, 567 KB

english, 2014

4

Bladder exstrophy and Epstein type congenital macrothrombocytopenia: Evidence for a common cause?

Boris Utsch, Analisa DiFeo, Annegret Kujat, Stephanie Karle, Volker Schuster, Harald Lenk, Ulla Jacobs, Martin Müller, Jörg Dötsch, Wolfgang Rascher, Heiko Reutter, John A. Martignetti, Michael Ludwig

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 76 KB

english, 2006

5

Mutational analysis of the NPHP4 gene in 250 patients with nephronophthisis

Julia Hoefele, Ralf Sudbrak, Richard Reinhardt, Silvia Lehrack, Steffen Hennig, Anita Imm, Ulla Muerb, Boris Utsch, Massimo Attanasio, John F. O'Toole, Edgar Otto, Friedhelm Hildebrandt

Journal:

Year:

2005

Language:

english

File:

PDF, 131 KB

english, 2005

6

Identification of the firstAHI1gene mutations in nephronophthisis-associated Joubert syndrome

Boris Utsch, John A. Sayer, Massimo Attanasio, Rob Rodrigues Pereira, Michael Eccles, Hans-Christian Hennies, Edgar A. Otto, Friedhelm Hildebrandt

Journal:

Pediatric Nephrology

Year:

2006

Language:

english

File:

PDF, 198 KB

english, 2006

7

Four Additional CLCN5 Exons Encode a Widely Expressed Novel Long CLC-5 Isoform but Fail to Explain Dent’s Phenotype in Patients without Mutations in the Short Variant

Ludwig, Michael, Waldegger, Siegfried, Nuutinen, Matti, B&ouml, kenkamp, Arend, Reissinger, Annette, Steckelbroeck, Stephan, Utsch, Boris

Journal:

Kidney & Blood Pressure Research

Year:

2003

Language:

english

File:

PDF, 237 KB

english, 2003

8

Transvascular kidney biopsy in adolescent patientsâsafe alternative to open procedures

Utsch, Boris, Hoppe, Hanno, Dittrich, Katalin, Amann, Kerstin, Gugger, Mathias, Tschumi, Sibylle, Galiano, Matthias, Plank, Christian, Rascher, Wolfgang, Schmid, Axel, Uder, Michael, DÃ¶tsch, JÃ¶rg

Journal:

Clinical Kidney Journal

Year:

2020

File:

PDF, 373 KB

2020

9

Hypercalciuria in patients withCLCN5mutations

Michael Ludwig, Boris Utsch, Bernd Balluch, Stefan Fründ, Eberhard Kuwertz-Bröking, Arend Bökenkamp

Journal:

Pediatric Nephrology

Year:

2006

Language:

english

File:

PDF, 174 KB

english, 2006

10

Haplotype analysis improves molecular diagnostics of autosomal recessive polycystic kidney disease

Mark B. Consugar, Sarah A. Anderson, Sandro Rossetti, V. Shane Pankratz, Christopher J. Ward, Roser Torra, Eliecer Coto, Monif El-Youssef, Sibel Kantarci, Boris Utsch, Friedhelm Hildebrandt, William E

Journal:

American Journal of Kidney Diseases

Year:

2005

Language:

english

File:

PDF, 487 KB

english, 2005

11

Exclusion of WTAP and HOXA13 as candidate genes for isolated hypospadias

Utsch, Boris, Kaya, Ali, &#x000D6, zburun, Atila, Lentze, Michael, Albers, Norbert, Ludwig, Michael

Journal:

Scandinavian Journal of Urology and Nephrology

Year:

2003

Language:

english

File:

PDF, 275 KB

english, 2003

12

Novel NCCT Gene Mutations as a Cause of Gitelman’s Syndrome and a Systematic Review of Mutant and Polymorphic NCCT Alleles

Reissinger, Annette, Ludwig, Michael, Utsch, Boris, Prömse, Astrid, Baulmann, Johannes, Weisser, Burkhard, Vetter, Hans, Kramer, Herbert J., Bokemeyer, Dirk

Journal:

Kidney & Blood Pressure Research

Year:

2003

Language:

english

File:

PDF, 172 KB

english, 2003

13

Novel OCRL1 Mutations in Patients With the Phenotype of Dent Disease

Boris Utsch, Arend Bökenkamp, Marcus R. Benz, Nesrin Besbas, Jörg Dötsch, Ingo Franke, Stefan Fründ, Faysal Gok, Bernd Hoppe, Stephanie Karle, Eberhard Kuwertz-Bröking, Guido Laube, Margarita Neb, Mat

Journal:

American Journal of Kidney Diseases

Year:

2006

Language:

english

File:

PDF, 1.23 MB

english, 2006

14

Phenotype Severity in the Bladder Exstrophy-Epispadias Complex: Analysis of Genetic and Nongenetic Contributing Factors in 441 Families from North America and Europe

Heiko Reutter, Simeon A. Boyadjiev, Lisa Gambhir, Anne-Karoline Ebert, Wolfgang H. Rösch, Raimund Stein, Annette Schröder, Thomas M. Boemers, Enrika Bartels, Hannes Vogt, Boris Utsch, Martin Müller, B

Journal:

The Journal of Pediatrics

Year:

2011

Language:

english

File:

PDF, 153 KB

english, 2011

15

Epidemiologic study of the bladder exstrophy-epispadias complex: analysis of 198 families

Lisa GAMBHIR Heiko REUTTER∗, Boris UTSCH†, Martin MÜLLER†, Birte DETLEFSEN‡, Hannes VOGT, Thomas M. BOEMERS‡, Wolfgang H. RÖSCH¶, Michael LUDWIG

Journal:

Journal of Pediatric Urology

Year:

2007

Language:

english

File:

PDF, 41 KB

english, 2007

16

Immature Gastric Teratoma of the Lesser Curvature in a Male Infant

Utsch, Boris, Fleischhack, Gudrun, Knöpfle, Gisela, Hasan, Carola, Bode, Udo

Journal:

Journal of Pediatric Gastroenterology & Nutrition

Year:

2001

Language:

english

File:

PDF, 302 KB

english, 2001

17

Genome-wide Association Study and Meta-Analysis Identify ISL1 as Genome-wide Significant Susceptibility Gene for Bladder Exstrophy

Draaken, Markus, Knapp, Michael, Pennimpede, Tracie, Schmidt, Johanna M., Ebert, Anne-Karolin, Rösch, Wolfgang, Stein, Raimund, Utsch, Boris, Hirsch, Karin, Boemers, Thomas M., Mangold, Elisabeth, Hei

Journal:

Year:

2015

Language:

english

File:

PDF, 6.74 MB

english, 2015

18

Molecular characterization of HOXA13 polyalanine expansion proteins in hand–foot–genital syndrome

Boris Utsch, Colleen D. McCabe, Kenneth Galbraith, Ricardo Gonzalez, Mark Born, Jörg Dötsch, Michael Ludwig, Heiko Reutter, Jeffrey W. Innis

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 270 KB

english, 2007

19

Homozygous α-thalassemia associated with hypospadias: SEA-type deletion does not affect expression of the -14 gene and loss of the θ1-globin gene on 16p13.3 is compensated by its duplicate θ2 on chromosome 10

Boris Utsch, Norbert Albers, Christof Dame, Peter Bartmann, Michael J. Lentze, Michael Ludwig

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 59 KB

english, 2001

20

A novel stable polyalanine [poly(A)] expansion in theHOXA13gene associated with hand-foot-genital syndrome: proper function of poly(A)-harbouring transcription factors depends on a critical repeat length?

Boris Utsch, Karl Becker, Detlef Brock, Michael J. Lentze, Frank Bidlingmaier, Michael Ludwig

Journal:

Year:

2002

Language:

english

File:

PDF, 120 KB

english, 2002

21

A Hospital-Based Intermittent Nocturnal Hemodialysis Program for Children and Adolescents

Anne Hoppe, Christina von Puttkamer, Ursula Linke, Cindy Kahler, Martina Booß, Renate Braunauer-Kolberg, Katja Hofmann, Petra Joachimsky, Ingrid Hirte, Sylke Schley, Boris Utsch, Julia Thumfart, Sonia

Journal:

The Journal of Pediatrics

Year:

2011

Language:

english

File:

PDF, 144 KB

english, 2011

22

Delayed transport of tissue-nonspecific alkaline phosphatase with missense mutations causing hypophosphatasia

Isabelle Brun-Heath, Anne-Sophie Lia-Baldini, Stéphane Maillard, Agnès Taillandier, Boris Utsch, Mark E. Nunes, Jean-Louis Serre, Etienne Mornet

Journal:

European Journal of Medical Genetics

Year:

2007

Language:

english

File:

PDF, 877 KB

english, 2007

23

Functional evaluation of Dent’s disease-causing mutations: implications for ClC-5 channel trafficking and internalization

Michael Ludwig, Jolanta Doroszewicz, Hannsjörg W. Seyberth, Arend Bökenkamp, Bernd Balluch, Matti Nuutinen, Boris Utsch, Siegfried Waldegger

Journal:

Year:

2005

Language:

english

File:

PDF, 483 KB

english, 2005

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