检索结果 - Niklas Dahl

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  1. 1
    Untangling the Phenotypic Heterogeneity of Diamond Blackfan Anemia

    Untangling the Phenotypic Heterogeneity of Diamond Blackfan Anemia 由 Jason E. Farrar, Niklas Dahl

    出版 2011
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  2. 2
    Familial osteochondritis dissecans associated with early osteoarthritis and disproportionate short stature

    Familial osteochondritis dissecans associated with early osteoarthritis and disproportionate short stature 由 Eva‐Lena Stattin, Yelverton Tegner, Magnus Domellöf, Niklas Dahl

    出版 2008
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  3. 3
    L<scp>MNB</scp>1‐related autosomal‐dominant leukodystrophy: Clinical and radiological course

    L<scp>MNB</scp>1‐related autosomal‐dominant leukodystrophy: Clinical and radiological course 由 Johannes Finnsson, Jimmy Sundblom, Niklas Dahl, Atle Melberg, Raili Raininko

    出版 2015
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  4. 4
    Recurrent <i><scp>GATA</scp>1</i> mutations in <scp>D</scp>iamond‐<scp>B</scp>lackfan anaemia

    Recurrent <i><scp>GATA</scp>1</i> mutations in <scp>D</scp>iamond‐<scp>B</scp>lackfan anaemia 由 Joakim Klar, Ayda Khalfallah, Pakeeza Arzoo Shaiq, Hanna T. Gazda, Niklas Dahl

    出版 2014
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    Carta
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  5. 5
    Isolation and characterization of Chinese hamster ovary cells defective in the intracellular metabolism of low density lipoprotein-derived cholesterol.

    Isolation and characterization of Chinese hamster ovary cells defective in the intracellular metabolism of low density lipoprotein-derived cholesterol. 由 Niklas Dahl, Karen L. Reed, M.A. Daunais, J R Faust, Laura Liscum

    出版 1992
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  6. 6
    FGF10 missense mutations in aplasia of lacrimal and salivary glands (ALSG)

    FGF10 missense mutations in aplasia of lacrimal and salivary glands (ALSG) 由 Miriam Entesarian, Johanna Dahlqvist, Vandana Shashi, Christy Stanley, Babak Falahat, William Reardon, Niklas Dahl

    出版 2007
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  7. 7
    Constitutional Downregulation of &lt;i&gt;SEMA5A&lt;/i&gt; Expression in Autism

    Constitutional Downregulation of &lt;i&gt;SEMA5A&lt;/i&gt; Expression in Autism 由 Malin Melin, Birgit Carlsson, Henrik Anckarsäter, Maria Råstam, Catalina Betancur, Anders Isaksson, Christopher Gillberg, Niklas Dahl

    出版 2006
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  8. 8
    Characterization of the Myotubularin Dual Specificity Phosphatase Gene Family from Yeast to Human

    Characterization of the Myotubularin Dual Specificity Phosphatase Gene Family from Yeast to Human 由 Jocelyn Laporte, F Blondeau, A. Buj-Bello, Dmitri Tentler, Christine Kretz, Niklas Dahl, Jean‐Louis Mandel

    出版 1998
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  9. 9
    WNT10A missense mutation associated with a complete Odonto-Onycho-Dermal Dysplasia syndrome

    WNT10A missense mutation associated with a complete Odonto-Onycho-Dermal Dysplasia syndrome 由 Sadia Nawaz, Joakim Klar, Muhammad Wajid, Muhammad Aslam, Muhammad Tariq, Jens Schuster, Shahid Mahmood Baig, Niklas Dahl

    出版 2009
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  10. 10
    Fibroblast growth factor 10 haploinsufficiency causes chronic obstructive pulmonary disease

    Fibroblast growth factor 10 haploinsufficiency causes chronic obstructive pulmonary disease 由 Joakim Klar, Peter Blomstrand, Charlott Brunmark, Jitendra Badhai, Hanna Falk Håkansson, Charlotte Brange, Birgitta Bergendal, Niklas Dahl

    出版 2011
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  11. 11
    Targeted Disruption of the Ribosomal Protein S19 Gene Is Lethal Prior to Implantation

    Targeted Disruption of the Ribosomal Protein S19 Gene Is Lethal Prior to Implantation 由 Hans Matsson, Edward J. Davey, Natalia Draptchinskaia, Isao Hamaguchi, Andreas Ooka, Per Levéen, Erik Forsberg, Stefan Karlsson, Niklas Dahl

    出版 2004
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  12. 12
    Evidence for autosomal recessive inheritance in SPG3A caused by homozygosity for a novel ATL1 missense mutation

    Evidence for autosomal recessive inheritance in SPG3A caused by homozygosity for a novel ATL1 missense mutation 由 Tahir Naeem Khan, Joakim Klar, Muhammad Tariq, Shehla Anjum Baig, Naveed Altaf Malik, Raja Yousaf, Shahid Mahmood Baig, Niklas Dahl

    出版 2014
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  13. 13
    Loss of ZDHHC15 expression in a woman with a balanced translocation t(X;15)(q13.3;cen) and severe mental retardation

    Loss of ZDHHC15 expression in a woman with a balanced translocation t(X;15)(q13.3;cen) and severe mental retardation 由 Mahmoud Mansouri, Lena Marklund, Peter Gustavsson, Edward J. Davey, Birgit Carlsson, Catharina Larsson, I. White, Karl‐Henrik Gustavson, Niklas Dahl

    出版 2005
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  14. 14
    A combined approach for single-cell mRNA and intracellular protein expression analysis

    A combined approach for single-cell mRNA and intracellular protein expression analysis 由 Johan Reimegård, Marcel Tarbier, Marcus Danielsson, Jens Schuster, Sathishkumar Baskaran, Styliani Panagiotou, Niklas Dahl, Marc R. Friedländer, Caroline J. Gallant

    出版 2021
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  15. 15
    Mutations in the Fatty Acid Transport Protein 4 Gene Cause the Ichthyosis Prematurity Syndrome

    Mutations in the Fatty Acid Transport Protein 4 Gene Cause the Ichthyosis Prematurity Syndrome 由 Joakim Klar, Martina Schweiger, Robert J. Zimmerman, Rudolf Zechner, Hao Li, Hans Törmä, Anders Vahlquist, B. Bouadjar, Niklas Dahl, Judith Fischer

    出版 2009
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  16. 16
    Congenital ichthyosis: mutations in ichthyin are associated with specific structural abnormalities in the granular layer of epidermis

    Congenital ichthyosis: mutations in ichthyin are associated with specific structural abnormalities in the granular layer of epidermis 由 Johanna Dahlqvist, Joakim Klar, Ingrid Haußer, I. Anton‐Lamprecht, Maritta Hellström Pigg, Tobias Gedde‐Dahl, Agneta Gånemo, Anders Vahlquist, Niklas Dahl

    出版 2007
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  17. 17
    Transcriptomes of Dravet syndrome iPSC derived GABAergic cells reveal dysregulated pathways for chromatin remodeling and neurodevelopment

    Transcriptomes of Dravet syndrome iPSC derived GABAergic cells reveal dysregulated pathways for chromatin remodeling and neurodevelopment 由 Jens Schuster, Loora Laan, Joakim Klar, Zhe Jin, Mikael Huss, Sergiy V. Korol, Feria Hikmet, Maria Sobol, Bryndis Birnir, Niklas Dahl

    出版 2019
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  18. 18
    Familial Hypercalcemia and Hypercalciuria Caused by a Novel Mutation in the Cytoplasmic Tail of the Calcium Receptor*

    Familial Hypercalcemia and Hypercalciuria Caused by a Novel Mutation in the Cytoplasmic Tail of the Calcium Receptor* 由 Tobias Carling, Éva Szabó, Mei Bai, Peter Ridefelt, Gunnar Westin, Peter Gustavsson, Sunita Trivedi, Per Hellman, Edward M. Brown, Niklas Dahl, Jonas Rastad

    出版 2000
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  19. 19
    The genetics of primary nocturnal enuresis: inheritance and suggestion of a second major gene on chromosome 12q.

    The genetics of primary nocturnal enuresis: inheritance and suggestion of a second major gene on chromosome 12q. 由 Henrik Arnell, Kelm Hjälmås, M Jagervall, Göran Läckgren, Arne Stenberg, Bengt Bengtsson, C Wassén, Tesfai Emahazion, Göran Annerén, U. Pettersson, Mats Sundvall, Niklas Dahl

    出版 1997
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  20. 20
    Detailed analysis of <i>HTT</i> repeat elements in human blood using targeted amplification-free long-read sequencing

    Detailed analysis of <i>HTT</i> repeat elements in human blood using targeted amplification-free long-read sequencing 由 Ida Höijer, Yu‐Chih Tsai, Tyson A. Clark, Paul Kotturi, Niklas Dahl, Eva‐Lena Stattin, Marie-Louise Bondeson, Lars Feuk, Ulf Gyllensten, Adam Ameur

    出版 2018
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