Ohcanbohtosat - Hennie T. Brüggenwirth

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  1. 1
    Mosaicism due to a Somatic Mutation of the Androgen Receptor Gene Determines Phenotype in Androgen Insensitivity Syndrome1

    Mosaicism due to a Somatic Mutation of the Androgen Receptor Gene Determines Phenotype in Androgen Insensitivity Syndrome1 Dahkki Paul‐Martin Holterhus, Hennie T. Brüggenwirth, Olaf Hiort, A. Kleinkauf-Houcken, K. Kruse, Gernot H.G. Sinnecker, Albert O. Brinkmann

    Almmustuhtton 1997
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  2. 2
    Androgen receptor mutations

    Androgen receptor mutations Dahkki Albert O. Brinkmann, Guido Jenster, Carrie Ris‐Stalpers, J.A.G.M. van der Korput, Hennie T. Brüggenwirth, Annemie L. M. Boehmer, Jan Trapman

    Almmustuhtton 1995
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  3. 3
    Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype

    Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype Dahkki Marlies J. Valstar, Hennie T. Brüggenwirth, Renske Olmer, Ron A. Wevers, Frans W. Verheijen, Ben J. H. M. Poorthuis, Dicky Halley, Frits A. Wijburg

    Almmustuhtton 2010
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  4. 4
    Rapid aneuploidy detection with multiplex ligation-dependent probe amplification: a prospective study of 4000 amniotic fluid samples

    Rapid aneuploidy detection with multiplex ligation-dependent probe amplification: a prospective study of 4000 amniotic fluid samples Dahkki Diane Van Opstal, Marjan Boter, Daniëlle de Jong, Cardi van den Berg, Hennie T. Brüggenwirth, Hajo I. J. Wildschut, Annelies de Klein, Robert‐Jan H. Galjaard

    Almmustuhtton 2008
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  5. 5
    Complete androgen insensitivity syndrome: factors influencing gonadal histology including germ cell pathology

    Complete androgen insensitivity syndrome: factors influencing gonadal histology including germ cell pathology Dahkki J. Kaprova-Pleskacova, Hans Stoop, Hennie T. Brüggenwirth, Martine Cools, Katja P. Wolffenbuttel, Stenvert L. S. Drop, Marta Šnajderová, Jan Lebl, J. Wolter Oosterhuis, Leendert H. J. Looijenga

    Almmustuhtton 2013
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  6. 6
    Dynamic assembly of end-joining complexes requires interaction between Ku70/80 and XRCC4

    Dynamic assembly of end-joining complexes requires interaction between Ku70/80 and XRCC4 Dahkki Pierre‐Olivier Mari, Bogdan I. Florea, Stephan P. Persengiev, Nicole S. Verkaik, Hennie T. Brüggenwirth, Mauro Modesti, Giuseppina Giglia‐Mari, Karel Bezstarosti, Jeroen Demmers, Theo M. Luider, Adriaan B. Houtsmuller, Dik C. van Gent

    Almmustuhtton 2006
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  7. 7
    Survival and prognostic factors in BRCA1-associated breast cancer

    Survival and prognostic factors in BRCA1-associated breast cancer Dahkki Cecile T.M. Brekelmans, Caroline Seynaeve, M. Menke-Pluymers, Hennie T. Brüggenwirth, Madeleine M.A. Tilanus‐Linthorst, C.C.M. Bartels, Mieke Kriege, Albertus N. van Geel, C. Crépin, Jannet Blom, Hanne Meijers-Heijboer, J.G.M. Klijn

    Almmustuhtton 2005
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  8. 8
    Best Practice Guidelines for the Use of Next-Generation Sequencing Applications in Genome Diagnostics: A National Collaborative Study of Dutch Genome Diagnostic Laboratories

    Best Practice Guidelines for the Use of Next-Generation Sequencing Applications in Genome Diagnostics: A National Collaborative Study of Dutch Genome Diagnostic Laboratories Dahkki Marjan M. Weiss, Bert van der Zwaag, Jan D.H. Jongbloed, Maartje J. Vogel, Hennie T. Brüggenwirth, Ronald H. Lekanne Deprez, Olaf R.F. Mook, Claudia Ruivenkamp, Marjon A. van Slegtenhorst, Arthur van den Wijngaard, Quinten Waisfisz, Marcel Nelen, Nienke van der Stoep

    Almmustuhtton 2013
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  9. 9
    Genotype<i>Versus</i>Phenotype in Families with Androgen Insensitivity Syndrome

    Genotype<i>Versus</i>Phenotype in Families with Androgen Insensitivity Syndrome Dahkki Annemie L. M. Boehmer, Hennie T. Brüggenwirth, Cissy van Assendelft, Barto J. Otten, M.C.T. Verleun-Mooijman, Martinus F. Niermeijer, Han G. Brunner, Catrienus W. Rouwé, J. J. J. Waelkens, Wilma Oostdijk, Wim J. Kleijer, Theodorus van der Kwast, Monique A. de Vroede, Stenvert L. S. Drop

    Almmustuhtton 2001
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  10. 10
    Pregnancy and Delivery Outcomes in Vascular Ehlers–Danlos Syndrome: A Retrospective Multicentre Cohort Study

    Pregnancy and Delivery Outcomes in Vascular Ehlers–Danlos Syndrome: A Retrospective Multicentre Cohort Study Dahkki Lisa M. van den Bersselaar, Ingrid M.B.H. van de Laar, Marieke J.H. Baars, Annette F. Baas, Eelco Dulfer, Apollonia T. J. M. Helderman‐van den Enden, Yvonne Hilhorst‐Hofstee, Robert M. Kauling, Marlies Kempers, Martijn A. Oudijk, Alessandra Maugeri, Hennie T. Brüggenwirth, Arjan C. Houweling, Serwet Demirdas

    Almmustuhtton 2025
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  11. 11
    Gonadal function and pathology in 17beta-HSD 3 and 5alpha-reductase deficiency

    Gonadal function and pathology in 17beta-HSD 3 and 5alpha-reductase deficiency Dahkki Lidewij Sophia Boogers, Hennie T. Brüggenwirth, Katja P. Wolffenbuttel, Remko Hersmus, Jillian Bryce, S. Faisal Ahmed, Angela K Lucas‐Herald, Federico Baronio, Martine Cools, Mona Ellaithi, Evgenia Globa, Tülay Güran, Olaf Hiort, Paul‐Martin Holterhus, Kenneth MсElreavey, Marek Niedziela, Marianna Rita Stancampiano, Büşra Gürpınar Tosun, Yolande van Bever, J. Wolter Oosterhuis, Leendert H. J. Looijenga, Sabine E Hannema

    Almmustuhtton 2025
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  12. 12
    Dual molecular diagnosis contributes to atypical Prader–Willi phenotype in monozygotic twins

    Dual molecular diagnosis contributes to atypical Prader–Willi phenotype in monozygotic twins Dahkki Fernanda Sarquis Jehee, Valdirene T. de Oliveira, Juliana Gurgel‐Giannetti, Rafaella X. Pietra, F.V.M. Rubatino, Natália Virtude Carobin, Gabrielle S. Vianna, Mariana L. de Freitas, Karla Fernandes, Beatriz S. V. Ribeiro, Hennie T. Brüggenwirth, Roza Ali‐Amin, Janson J. White, Zeynep Coban‐Akdemir, Shalini N. Jhangiani, Richard A. Gibbs, James R. Lupski, Monica Castro Varela, Célia Priszkulnik Koiffmann, Carla Rosenberg, Claudia M.B. Carvalho

    Almmustuhtton 2017
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  13. 13
    Vascular Ehlers-Danlos Syndrome: A Comprehensive Natural History Study in a Dutch National Cohort of 142 Patients

    Vascular Ehlers-Danlos Syndrome: A Comprehensive Natural History Study in a Dutch National Cohort of 142 Patients Dahkki Serwet Demirdas, Lisa M. van den Bersselaar, Rosan Lechner, J.D. Bos, Suzanne Alsters, Marieke J.H. Baars, Annette F. Baas, Özlem Baysal, Saskia N. van der Crabben, Eelco Dulfer, Noor A. A. Giesbertz, Apollonia T.J.M. Helderman-van den Enden, Yvonne Hilhorst‐Hofstee, Marlies Kempers, Fenne L. Komdeur, Bart Loeys, Daniëlle Majoor‐Krakauer, Charlotte W. Ockeloen, Eline Overwater, J. Peter van Tintelen, Marsha Voorendt, Vivian de Waard, Alessandra Maugeri, Hennie T. Brüggenwirth, Ingrid M.B.H. van de Laar, Arjan C. Houweling

    Almmustuhtton 2024
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  14. 14
    Mutations in a TGF-β Ligand, TGFB3, Cause Syndromic Aortic Aneurysms and Dissections

    Mutations in a TGF-β Ligand, TGFB3, Cause Syndromic Aortic Aneurysms and Dissections Dahkki Aida M. Bertoli‐Avella, Elisabeth Gillis, Hiroko Morisaki, Judith M.A. Verhagen, Bianca M. de Graaf, Gerarda van de Beek, Elena Gallo, Boudewijn P. T. Kruithof, Hanka Venselaar, Loretha Myers, Steven Laga, Alexander Doyle, Gretchen Oswald, Gert W. A. van Cappellen, Itaru Yamanaka, R.M. van der Helm, Berna Beverloo, Annelies de Klein, Luba M. Pardo, Martin Lammens, Christina Evers, Koenraad Devriendt, Michiel Dumoulein, Janneke Timmermans, Hennie T. Brüggenwirth, Frans W. Verheijen, Inez Rodrigus, Gareth Baynam, Marlies Kempers, Johan Saenen, Emeline M. Van Craenenbroeck, Kenji Minatoya, Ritsu Matsukawa, Takuro Tsukube, Noriaki Kubo, Robert M.W. Hofstra, Marie‐José Goumans, Jos A. Bekkers, Jolien W. Roos‐Hesselink, Ingrid M.B.H. van de Laar, Harry C. Dietz, Lut Van Laer, Takayuki Morisaki, Marja W. Wessels, Bart Loeys

    Almmustuhtton 2015
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  15. 15
    Biallelic variants in TMEM222 cause a new autosomal recessive neurodevelopmental disorder

    Biallelic variants in TMEM222 cause a new autosomal recessive neurodevelopmental disorder Dahkki D.L. Polla, Mohammad Ali Farazi Fard, Zahra Tabatabaei, Parham Habibzadeh, Olga Levchenko, Pooneh Nikuei, Periklis Makrythanasis, Mureed Hussain, Sandra von Hardenberg, Sirous Zeinali, Mohammad‐Sadegh Fallah, Janneke Schuurs-Hoeijmakers, Mohsin Shahzad, Fareeha Fatima, Neelam Fatima, Laura Donker Kaat, Hennie T. Brüggenwirth, Leah R. Fleming, John Condie, Rafał Płoski, Agnieszka Pollak, Jacek Pilch, Nina Demina, А. Л. Чухрова, Vasilina S. Sergeeva, Hanka Venselaar, Amira Masri, Hanan Hamamy, Federico Santoni, Katrin Linda, Zubair M. Ahmed, Nael Nadif Kasri, Arjan P.M. de Brouwer, Anke K. Bergmann, Sven Hethey, Majid Yavarian, Muhammad Ansar, Saima Riazuddin, Sheikh Riazuddin, Mohammad Silawi, Gaia Ruggeri, Filomena Pirozzi, Ebrahim Eftekhar, Afsaneh Taghipour Sheshdeh, Shima Bahramjahan, Ghayda Mirzaa, А. В. Лавров, Stylianos E. Antonarakis, Mohammad Ali Faghihi, Hans van Bokhoven

    Almmustuhtton 2021
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  16. 16
    The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

    The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies Dahkki Claire Redin, Harrison Brand, Ryan L. Collins, Tammy Kammin, Elyse Mitchell, Jennelle C. Hodge, Carrie Hanscom, Vamsee Pillalamarri, Catarina M. Seabra, Mary‐Alice Abbott, Omar Abdul‐Rahman, Erika Aberg, Rhett Adley, Sofía Lizeth Alcaráz‐Estrada, Fowzan S. Alkuraya, Yu An, MaryAnne Anderson, Caroline Antolik, Kwame Anyane‐Yeboa, Joan Atkin, Tina M. Bartell, Jonathan A. Bernstein, Elizabeth Beyer, Ian Blumenthal, Ernie M.H.F. Bongers, Eva H. Brilstra, Chester Brown, Hennie T. Brüggenwirth, Bert Callewaert, Colby Chiang, Ken Corning, Helen Cox, Edwin Cuppen, Benjamin Currall, Tom Cushing, D. David, Matthew A. Deardorff, Annelies Dheedene, Marc D’Hooghe, Bert B.A. de Vries, Dawn Earl, Heather Ferguson, Heather Fisher, David Fitzpatrick, Pamela Gerrol, Daniela Giachino, Joseph Glessner, Troy J. Gliem, Margo Grady, Brett H. Graham, Cristin Griffis, Karen W. Gripp, Andrea Gropman, Andrea Hanson‐Kahn, David J. Harris, Mark A. Hayden, R. Sean Hill, Ron Hochstenbach, Jodi D. Hoffman, Robert J. Hopkin, Monika Weisz Hubshman, A. Micheil Innes, Mira Irons, Melita Irving, Jessie C. Jacobsen, Sandra Janssens, Tamison Jewett, John P. Johnson, Marjolijn C.J. Jongmans, Stephen G. Kahler, David A. Koolen, Jerome Korzelius, Peter M. Kroisel, Yves Lacassie, William Lawless, Emmanuelle Lemyre, Kathleen A. Leppig, Alex V. Levin, Haibo Li, Hong Li, Eric C. Liao, Cynthia Lim, Edward J. Lose, Diane Lucente, Michael J. Macera, Poornima Manavalan, Giorgia Mandrile, Carlo Marcelis, Lauren Margolin, Tamara Mason, Diane Masser‐Frye, Michael McClellan, Cinthya J. Zepeda Mendoza, Björn Menten, Sjors Middelkamp, Liya Regina Mikami, Emily Moe, Shehla Mohammed, Tarja Mononen, Megan Mortenson

    Almmustuhtton 2016
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