檢索結果 - Hoefele, Julia

BK virus induced nephritis in a boy with acute myeloid leukaemia undergoing bone marrow transplantation 由 Hoefele, Julia, Rüssmann, Despina, Klein, Barbara, Weber, Lutz T., Führer, Monika

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MAP2 – A Candidate Gene for Epilepsy, Developmental Delay and Behavioral Abnormalities in a Patient With Microdeletion 2q34 由 Westphal, Dominik S., Andres, Stephanie, Makowski, Christine, Meitinger, Thomas, Hoefele, Julia

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No Impact of the Analytical Method Used for Determining Cystatin C on Estimating Glomerular Filtration Rate in Children 由 Alberer, Martin, Hoefele, Julia, Benz, Marcus R., Bökenkamp, Arend, Weber, Lutz T.

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Pseudodominant inheritance of nephronophthisis caused by a homozygous NPHP1 deletion 由 Hoefele, Julia, Nayir, Ahmet, Imm, Anita, Allen, Susan J., Otto, Edgar A., Hildebrandt, Friedhelm

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Mosaic trisomy 12 diagnosed in a female patient: clinical features, genetic analysis, and review of the literature 由 Hainz, Daniela, Krüger, Marcus, Reber, Daniela, Mehnert, Karl, Brunet, Theresa, Lederer, Gabriele, Langer-Freitag, Sabine, Hoefele, Julia

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Identification of a Novel Heterozygous De Novo 7-bp Frameshift Deletion in PBX1 by Whole-Exome Sequencing Causing a Multi-Organ Syndrome Including Bilateral Dysplastic Kidneys and... 由 Riedhammer, Korbinian Maria, Siegel, Corinna, Alhaddad, Bader, Montoya, Carmen, Kovacs-Nagy, Reka, Wagner, Matias, Meitinger, Thomas, Hoefele, Julia

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Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies 由 Chaki, Moumita, Hoefele, Julia, Allen, Susan J., Ramaswami, Gokul, Janssen, Sabine, Bergmann, Carsten, Heckenlively, John R., Otto, Edgar A., Hildebrandt, Friedhelm

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The Hypomorphic Variant p.(Gly624Asp) in COL4A5 as a Possible Cause for an Unexpected Severe Phenotype in a Family With X-Linked Alport Syndrome 由 Macheroux, Eva Pauline, Braunisch, Matthias C., Pucci Pegler, Stephanie, Satanovskij, Robin, Riedhammer, Korbinian M., Günthner, Roman, Gross, Oliver, Nagel, Mato, Renders, Lutz, Hoefele, Julia

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Correlation of PET-MRI, Pathology, LOH, and Surgical Success in a Case of CHI With Atypical Large Pancreatic Focus 由 Vossschulte, Hendrik, Mohnike, Konrad, Mohnike, Klaus, Warncke, Katharina, Akcay, Ayse, Zenker, Martin, Wieland, Ilse, Schanze, Ina, Hoefele, Julia, Förster, Christine, Barthlen, Winfried, Stahlberg, Kim, Empting, Susann

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Mapping of a new locus for congenital anomalies of the kidney and urinary tract on chromosome 8q24 由 Ashraf, Shazia, Hoskins, Bethan E., Chaib, Hassan, Hoefele, Julia, Pasch, Andreas, Saisawat, Pawaree, Trefz, Friedrich, Hacker, Hans W., Nuernberg, Gudrun, Nuernberg, Peter, Otto, Edgar A., Hildebrandt, Friedhelm

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Identification of two novel CAKUT-causing genes by massively parallel exon resequencing of candidate genes in patients with unilateral renal agenesis 由 Saisawat, Pawaree, Tasic, Velibor, Vega-Warner, Virginia, Kehinde, Elijah O., Günther, Barbara, Airik, Rannar, Innis, Jeffrey W., Hoskins, Bethan E., Hoefele, Julia, Otto, Edgar A., Hildebrandt, Friedhelm

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Mapping of Gene Loci for Nephronophthisis Type 4 and Senior-Løken Syndrome, to Chromosome 1p36 由 Schuermann, Maria J., Otto, Edgar, Becker, Achim, Saar, Katrin, Rüschendorf, Franz, Polak, Bettine C., Ala-Mello, Sirpa, Hoefele, Julia, Wiedensohler, Alexander, Haller, Maria, Omran, Heymut, Nürnberg, Peter, Hildebrandt, Friedhelm

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A Gene Mutated in Nephronophthisis and Retinitis Pigmentosa Encodes a Novel Protein, Nephroretinin, Conserved in Evolution 由 Otto, Edgar, Hoefele, Julia, Ruf, Rainer, Mueller, Adelheid M., Hiller, Karl S., Wolf, Matthias T. F., Schuermann, Maria J., Becker, Achim, Birkenhäger, Ralf, Sudbrak, Ralf, Hennies, Hans C., Nürnberg, Peter, Hildebrandt, Friedhelm

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Heterozygous COL4A3 Variants in Histologically Diagnosed Focal Segmental Glomerulosclerosis 由 Braunisch, Matthias C., Büttner-Herold, Maike, Günthner, Roman, Satanovskij, Robin, Riedhammer, Korbinian M., Herr, Pierre-Maurice, Klein, Hanns-Georg, Wahl, Dagmar, Küchle, Claudius, Renders, Lutz, Heemann, Uwe, Schmaderer, Christoph, Hoefele, Julia

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Renal and Skeletal Anomalies in a Cohort of Individuals With Clinically Presumed Hereditary Nephropathy Analyzed by Molecular Genetic Testing 由 Stippel, Michaela, Riedhammer, Korbinian M., Lange-Sperandio, Bärbel, Geßner, Michaela, Braunisch, Matthias C., Günthner, Roman, Bald, Martin, Schmidts, Miriam, Strotmann, Peter, Tasic, Velibor, Schmaderer, Christoph, Renders, Lutz, Heemann, Uwe, Hoefele, Julia

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Identification of disease-causing variants by comprehensive genetic testing with exome sequencing in adults with suspicion of hereditary FSGS 由 Braunisch, Matthias Christoph, Riedhammer, Korbinian Maria, Herr, Pierre-Maurice, Draut, Sarah, Günthner, Roman, Wagner, Matias, Weidenbusch, Marc, Lungu, Adrian, Alhaddad, Bader, Renders, Lutz, Strom, Tim M., Heemann, Uwe, Meitinger, Thomas, Schmaderer, Christoph, Hoefele, Julia

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Exome sequencing in individuals with cardiovascular laterality defects identifies potential candidate genes 由 Breuer, Katinka, Riedhammer, Korbinian M., Müller, Nicole, Schaidinger, Birthe, Dombrowsky, Gregor, Dittrich, Sven, Zeidler, Susanne, Bauer, Ulrike M. M., Westphal, Dominik S., Meitinger, Thomas, Dakal, Tikam Chand, Hitz, Marc-Phillip, Breuer, Johannes, Reutter, Heiko, Hilger, Alina C., Hoefele, Julia

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Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1 由 Appelhof, Bart, Wagner, Matias, Hoefele, Julia, Heinze, Anja, Roser, Timo, Koch-Hogrebe, Margarete, Roosendaal, Stefan D., Dehghani, Mohammadreza, Mehrjardi, Mohammad Yahya Vahidi, Torti, Erin, Houlden, Henry, Maroofian, Reza, Rajabi, Farrah, Sticht, Heinrich, Baas, Frank, Wieczorek, Dagmar, Jamra, Rami Abou

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Mutations in Multiple PKD Genes May Explain Early and Severe Polycystic Kidney Disease 由 Bergmann, Carsten, von Bothmer, Jennifer, Ortiz Brüchle, Nadina, Venghaus, Andreas, Frank, Valeska, Fehrenbach, Henry, Hampel, Tobias, Pape, Lars, Buske, Annegret, Jonsson, Jon, Sarioglu, Nanette, Santos, Antónia, Ferreira, Jose Carlos, Becker, Jan U., Cremer, Reinhold, Hoefele, Julia, Benz, Marcus R., Weber, Lutz T., Buettner, Reinhard, Zerres, Klaus

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Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination 由 Otto, Edgar A, Schermer, Bernhard, Obara, Tomoko, O'Toole, John F, Hiller, Karl S, Mueller, Adelheid M, Ruf, Rainer G, Hoefele, Julia, Beekmann, Frank, Landau, Daniel, Foreman, John W, Goodship, Judith A, Strachan, Tom, Kispert, Andreas, Wolf, Matthias T, Gagnadoux, Marie F, Nivet, Hubert, Antignac, Corinne, Walz, Gerd, Drummond, Iain A, Benzing, Thomas, Hildebrandt, Friedhelm

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