检索结果 - Budde, Birgit

Genes from Chagas Susceptibility Loci That Are Differentially Expressed in T. cruzi-Resistant Mice Are Candidates Accounting for Impaired Immunity 由 Graefe, Sebastian E. B., Streichert, Thomas, Budde, Birgit S., Nürnberg, Peter, Steeg, Christiane, Müller-Myhsok, Bertram, Fleischer, Bernhard

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A hypomorphic BMPR1B mutation causes du Pan acromesomelic dysplasia 由 Stange, Katja, Désir, Julie, Kakar, Naseebullah, Mueller, Thomas D., Budde, Birgit S., Gordon, Christopher T., Horn, Denise, Seemann, Petra, Borck, Guntram

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First confirmatory study on PTPRQ as an autosomal dominant non-syndromic hearing loss gene 由 Oziębło, Dominika, Sarosiak, Anna, Leja, Marcin L., Budde, Birgit S., Tacikowska, Grażyna, Di Donato, Nataliya, Bolz, Hanno J., Nürnberg, Peter, Skarżyński, Henryk, Ołdak, Monika

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Noncompaction of the Ventricular Myocardium Is Associated with a De Novo Mutation in the β-Myosin Heavy Chain Gene 由 Budde, Birgit S., Binner, Priska, Waldmüller, Stephan, Höhne, Wolfgang, Blankenfeldt, Wulf, Hassfeld, Sabine, Brömsen, Jürgen, Dermintzoglou, Anastassia, Wieczorek, Marcus, May, Erik, Kirst, Elisabeth, Selignow, Carmen, Rackebrandt, Kirsten, Müller, Melanie, Goody, Roger S., Vosberg, Hans-Peter, Nürnberg, Peter, Scheffold, Thomas

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CDK5RAP2 interaction with components of the Hippo signaling pathway may play a role in primary microcephaly 由 Sukumaran, Salil K., Stumpf, Maria, Salamon, Sarah, Ahmad, Ilyas, Bhattacharya, Kurchi, Fischer, Sarah, Müller, Rolf, Altmüller, Janine, Budde, Birgit, Thiele, Holger, Tariq, Muhammad, Malik, Naveed Altaf, Nürnberg, Peter, Baig, Shahid Mahmood, Hussain, Muhammad Sajid, Noegel, Angelika A.

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A Homozygous AKNA Frameshift Variant Is Associated with Microcephaly in a Pakistani Family 由 Waseem, Syeda Seema, Moawia, Abubakar, Budde, Birgit, Tariq, Muhammad, Khan, Ayaz, Ali, Zafar, Khan, Sheraz, Iqbal, Maria, Malik, Naveed Altaf, Haque, Saif ul, Altmüller, Janine, Thiele, Holger, Hussain, Muhammad Sajid, Cirak, Sebahattin, Baig, Shahid Mahmood, Nürnberg, Peter

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Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin 由 Hennies, Hans Christian, Kornak, Uwe, Zhang, Haikuo, Egerer, Johannes, Zhang, Xin, Seifert, Wenke, Kühnisch, Jirko, Budde, Birgit, Nätebus, Marc, Brancati, Francesco, Wilcox, William R., Müller, Dietmar, Kaplan, Paige B., Rajab, Anna, Zampino, Giuseppe, Fodale, Valentina, Dallapiccola, Bruno, Newman, William, Metcalfe, Kay, Clayton-Smith, Jill, Tassabehji, May, Steinmann, Beat, Barr, Francis A., Nürnberg, Peter, Wieacker, Peter, Mundlos, Stefan

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Modifier Genes in Microcephaly: A Report on WDR62, CEP63, RAD50 and PCNT Variants Exacerbating Disease Caused by Biallelic Mutations of ASPM and CENPJ 由 Makhdoom, Ehtisham Ul Haq, Waseem, Syeda Seema, Iqbal, Maria, Abdullah, Uzma, Hussain, Ghulam, Asif, Maria, Budde, Birgit, Höhne, Wolfgang, Tinschert, Sigrid, Saadi, Saadia Maryam, Yousaf, Hammad, Ali, Zafar, Fatima, Ambrin, Kaygusuz, Emrah, Khan, Ayaz, Jameel, Muhammad, Khan, Sheraz, Tariq, Muhammad, Anjum, Iram, Altmüller, Janine, Thiele, Holger, Höning, Stefan, Baig, Shahid Mahmood, Nürnberg, Peter, Hussain, Muhammad Sajid

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An update of pathogenic variants in ASPM, WDR62, CDK5RAP2, STIL, CENPJ, and CEP135 underlying autosomal recessive primary microcephaly in 32 consanguineous families from Pakistan 由 Rasool, Sajida, Baig, Jamshaid Mahmood, Moawia, Abubakar, Ahmad, Ilyas, Iqbal, Maria, Waseem, Syeda Seema, Asif, Maria, Abdullah, Uzma, Makhdoom, Ehtisham Ul Haq, Kaygusuz, Emrah, Zakaria, Muhammad, Ramzan, Shafaq, Haque, Saif ul, Mir, Asif, Anjum, Iram, Fiaz, Mehak, Ali, Zafar, Tariq, Muhammad, Saba, Neelam, Hussain, Wajid, Budde, Birgit, Irshad, Saba, Noegel, Angelika Anna, Höning, Stefan, Baig, Shahid Mahmood, Nürnberg, Peter, Hussain, Muhammad Sajid

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De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway 由 Asif, Maria, Kaygusuz, Emrah, Shinawi, Marwan, Nickelsen, Anna, Hsieh, Tzung-Chien, Wagle, Prerana, Budde, Birgit S., Hochscherf, Jennifer, Abdullah, Uzma, Höning, Stefan, Nienberg, Christian, Lindenblatt, Dirk, Noegel, Angelika A., Altmüller, Janine, Thiele, Holger, Motameny, Susanne, Fleischer, Nicole, Segal, Idan, Pais, Lynn, Tinschert, Sigrid, Samra, Nadra Nasser, Savatt, Juliann M., Rudy, Natasha L., De Luca, Chiara, Paola Fortugno, White, Susan M., Krawitz, Peter, Hurst, Anna C.E., Niefind, Karsten, Jose, Joachim, Brancati, Francesco, Nürnberg, Peter, Hussain, Muhammad Sajid

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Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies 由 Iqbal, Maria, Maroofian, Reza, Çavdarlı, Büşranur, Riccardi, Florence, Field, Michael, Banka, Siddharth, Bubshait, Dalal K., Li, Yun, Hertecant, Jozef, Baig, Shahid Mahmood, Dyment, David, Efthymiou, Stephanie, Abdullah, Uzma, Makhdoom, Ehtisham Ul Haq, Ali, Zafar, Scherf de Almeida, Tobias, Molinari, Florence, Mignon-Ravix, Cécile, Chabrol, Brigitte, Antony, Jayne, Ades, Lesley, Pagnamenta, Alistair T., Jackson, Adam, Douzgou, Sofia, Beetz, Christian, Karageorgou, Vasiliki, Vona, Barbara, Rad, Aboulfazl, Baig, Jamshaid Mahmood, Sultan, Tipu, Alvi, Javeria Raza, Maqbool, Shazia, Rahman, Fatima, Toosi, Mehran Beiraghi, Ashrafzadeh, Farah, Imannezhad, Shima, Karimiani, Ehsan Ghayoor, Sarwar, Yasra, Khan, Sheraz, Jameel, Muhammad, Noegel, Angelika A., Budde, Birgit, Altmüller, Janine, Motameny, Susanne, Höhne, Wolfgang, Houlden, Henry, Nürnberg, Peter, Wollnik, Bernd, Villard, Laurent, Alkuraya, Fowzan Sami, Osmond, Matthew, Hussain, Muhammad Sajid, Yigit, Gökhan

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Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome 由 Braun, Daniela A., Lovric, Svjetlana, Schapiro, David, Schneider, Ronen, Marquez, Jonathan, Asif, Maria, Hussain, Muhammad Sajid, Daga, Ankana, Widmeier, Eugen, Rao, Jia, Ashraf, Shazia, Tan, Weizhen, Lusk, C. Patrick, Kolb, Amy, Jobst-Schwan, Tilman, Schmidt, Johanna Magdalena, Hoogstraten, Charlotte A., Eddy, Kaitlyn, Kitzler, Thomas M., Shril, Shirlee, Moawia, Abubakar, Schrage, Kathrin, Khayyat, Arwa Ishaq A., Lawson, Jennifer A., Gee, Heon Yung, Warejko, Jillian K., Hermle, Tobias, Majmundar, Amar J., Hugo, Hannah, Budde, Birgit, Motameny, Susanne, Altmüller, Janine, Noegel, Angelika Anna, Fathy, Hanan M., Gale, Daniel P., Waseem, Syeda Seema, Khan, Ayaz, Kerecuk, Larissa, Hashmi, Seema, Mohebbi, Nilufar, Ettenger, Robert, Serdaroğlu, Erkin, Alhasan, Khalid A., Hashem, Mais, Goncalves, Sara, Ariceta, Gema, Ubetagoyena, Mercedes, Antonin, Wolfram, Baig, Shahid Mahmood, Alkuraya, Fowzan S., Shen, Qian, Xu, Hong, Antignac, Corinne, Lifton, Richard P., Mane, Shrikant, Nürnberg, Peter, Khokha, Mustafa K., Hildebrandt, Friedhelm

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