Αποτελέσματα αναζήτησης - Schanze, Ina

Expanding the mutational spectrum in Johanson‐Blizzard syndrome: identification of whole exon deletions and duplications in the UBR1 gene by multiplex ligation‐dependent probe ampl... από Sukalo, Maja, Schäflein, Eva, Schanze, Ina, Everman, David B., Rezaei, Nima, Argente, Jesús, Lorda‐Sanchez, Isabel, Deshpande, Charu, Takahashi, Tsutomu, Kleger, Alexander, Zenker, Martin

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Correlation of PET-MRI, Pathology, LOH, and Surgical Success in a Case of CHI With Atypical Large Pancreatic Focus από 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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Multiple Small Supernumerary Marker Chromosomes Resulting from Maternal Meiosis I or II Errors από Hochstenbach, Ron, Nowakowska, Beata, Volleth, Marianne, Ummels, Amber, Kutkowska-Kaźmierczak, Anna, Obersztyn, Ewa, Ziemkiewicz, Kamila, Gerloff, Claudia, Schanze, Denny, Zenker, Martin, Muschke, Petra, Schanze, Ina, Poot, Martin, Liehr, Thomas

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Loss-of-function variants in HIVEP2 are a cause of intellectual disability από Srivastava, Siddharth, Engels, Hartmut, Schanze, Ina, Cremer, Kirsten, Wieland, Thomas, Menzel, Moritz, Schubach, Max, Biskup, Saskia, Kreiß, Martina, Endele, Sabine, Strom, Tim M, Wieczorek, Dagmar, Zenker, Martin, Gupta, Siddharth, Cohen, Julie, Zink, Alexander M, Naidu, SakkuBai

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Genotype and phenotype spectrum of NRAS germline variants από Altmüller, Franziska, Lissewski, Christina, Bertola, Debora, Flex, Elisabetta, Stark, Zornitza, Spranger, Stephanie, Baynam, Gareth, Buscarilli, Michelle, Dyack, Sarah, Gillis, Jane, Yntema, Helger G, Pantaleoni, Francesca, van Loon, Rosa LE, MacKay, Sara, Mina, Kym, Schanze, Ina, Tan, Tiong Yang, Walsh, Maie, White, Susan M, Niewisch, Marena R, García-Miñaúr, Sixto, Plaza, Diego, Ahmadian, Mohammad Reza, Cavé, Hélène, Tartaglia, Marco, Zenker, Martin

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NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly από Schanze, Ina, Bunt, Jens, Lim, Jonathan W.C., Schanze, Denny, Dean, Ryan J., Alders, Marielle, Blanchet, Patricia, Attié-Bitach, Tania, Berland, Siren, Boogert, Steven, Boppudi, Sangamitra, Bridges, Caitlin J., Cho, Megan T., Dobyns, William B., Donnai, Dian, Douglas, Jessica, Earl, Dawn L., Edwards, Timothy J., Faivre, Laurence, Fregeau, Brieana, Genevieve, David, Gérard, Marion, Gatinois, Vincent, Holder-Espinasse, Muriel, Huth, Samuel F., Izumi, Kosuke, Kerr, Bronwyn, Lacaze, Elodie, Lakeman, Phillis, Mahida, Sonal, Mirzaa, Ghayda M., Morgan, Sian M., Nowak, Catherine, Peeters, Hilde, Petit, Florence, Pilz, Daniela T., Puechberty, Jacques, Reinstein, Eyal, Rivière, Jean-Baptiste, Santani, Avni B., Schneider, Anouck, Sherr, Elliott H., Smith-Hicks, Constance, Wieland, Ilse, Zackai, Elaine, Zhao, Xiaonan, Gronostajski, Richard M., Zenker, Martin, Richards, Linda J.

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