Resultados de Búsqueda por Autor

1

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

Publicado 2011

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2

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

Publicado 2008

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3

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

Publicado 2015

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4

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

Publicado 2014

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5

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

Publicado 1992

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6

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

Publicado 2007

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7

Constitutional Downregulation of SEMA5A Expression in Autism por Malin Melin, Birgit Carlsson, Henrik Anckarsäter, Maria Råstam, Catalina Betancur, Anders Isaksson, Christopher Gillberg, Niklas Dahl

Publicado 2006

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8

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

Publicado 1998

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9

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

Publicado 2009

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10

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

Publicado 2011

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11

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

Publicado 2004

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12

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

Publicado 2014

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13

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

Publicado 2005

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14

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

Publicado 2021

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15

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

Publicado 2009

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16

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

Publicado 2007

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17

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

Publicado 2019

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18

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

Publicado 2000

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19

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

Publicado 1997

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20

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

Publicado 2018

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

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

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

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

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

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

Constitutional Downregulation of <i>SEMA5A</i> Expression in Autism por Malin Melin, Birgit Carlsson, Henrik Anckarsäter, Maria Råstam, Catalina Betancur, Anders Isaksson, Christopher Gillberg, Niklas Dahl

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

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

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

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

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

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

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

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

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

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

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

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

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

Resultados de búsqueda - Niklas Dahl

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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Constitutional Downregulation of <i>SEMA5A</i> Expression in Autism por Malin Melin, Birgit Carlsson, Henrik Anckarsäter, Maria Råstam, Catalina Betancur, Anders Isaksson, Christopher Gillberg, Niklas Dahl