Untangling the Phenotypic Heterogeneity of Diamond Blackfan Anemia

Por Farrar, Jason E, Dahl, Niklas
Publicado em 2011

FATP4 missense and nonsense mutations cause similar features in Ichthyosis Prematurity Syndrome

Por Dahl Niklas, Sobol Maria, Klar Joakim
Publicado em 2011-03-01

FATP4 missense and nonsense mutations cause similar features in Ichthyosis Prematurity Syndrome

Por Sobol, Maria, Dahl, Niklas, Klar, Joakim
Publicado em 2011

5′UTR Variants of Ribosomal Protein S19 Transcript Determine Translational Efficiency: Implications for Diamond-Blackfan Anemia and Tissue Variability

Por Badhai, Jitendra, Schuster, Jens, Gidlöf, Olof, Dahl, Niklas
Publicado em 2011

siRNA Silencing of Proteasome Maturation Protein (POMP) Activates the Unfolded Protein Response and Constitutes a Model for KLICK Genodermatosis

Por Dahlqvist, Johanna, Törmä, Hans, Badhai, Jitendra, Dahl, Niklas
Publicado em 2012

Clinical utility gene card for: Diamond Blackfan anemia

Por Vlachos, Adrianna, Dahl, Niklas, Dianzani, Irma, Lipton, Jeffrey M
Publicado em 2011

Clinical utility gene card for: Diamond – Blackfan Anemia – update 2013

Por Vlachos, Adrianna, Dahl, Niklas, Dianzani, Irma, Lipton, Jeffrey M
Publicado em 2013

LMNB1‐related autosomal‐dominant leukodystrophy: Clinical and radiological course

Por Finnsson, Johannes, Sundblom, Jimmy, Dahl, Niklas, Melberg, Atle, Raininko, Raili
Publicado no Ann Neurol (2015)

Abnormal primary and permanent dentitions with ectodermal symptoms predict WNT10A deficiency

Por Bergendal, Birgitta, Norderyd, Johanna, Zhou, Xiaolei, Klar, Joakim, Dahl, Niklas
Publicado no BMC Med Genet (2016)

Ribosomal protein S19 and S24 insufficiency cause distinct cell cycle defects in Diamond-Blackfan anemia

Por Badhai, Jitendra, Fröjmark, Anne-Sophie, Davey, Edward, Schuster, Jens, Dahl, Niklas
Publicado em 2009

A novel mutation in the Lipase H gene underlies autosomal recessive hypotrichosis and woolly hair

Por Tariq, Muhammad, Azhar, Aysha, Baig, Shahid Mahmood, Dahl, Niklas, Klar, Joakim
Publicado em 2012

Down-regulation of progesterone receptor membrane component 1 (PGRMC1) in peripheral nucleated blood cells associated with premature ovarian failure (POF) and polycystic ovary synd...

Por Schuster, Jens, Karlsson, Teresia, Karlström, Per-Olof, Poromaa, Inger Sundström, Dahl, Niklas
Publicado em 2010

Multiple epiphyseal dysplasia: A clinical and genetic study of 12 cases in a Swedish 6-generation family

Por Dahlqvist, Johanna, Örlén, Hanna, Matsson, Hans, Dahl, Niklas, LÖnnerholm, Torsten, Gustavson, Karl-Henrik
Publicado em 2009

Ribosomal protein S19 binds to its own mRNA with reduced affinity in Diamond-Blackfan Anemia

Por Schuster, Jens, Fröjmark, Anne-Sophie, Nilsson, Per, Badhai, Jitendra, Virtanen, Anders, Dahl, Niklas
Publicado em 2010

Posttranscriptional down regulation of small ribosomal subunit proteins correlates with reduction of 18S rRNA in RPS19 deficiency

Por Badhai, Jitendra, Fröjmark, Anne-Sophie, Razzaghian, Hamid Reza, Davey, Edward, Schuster, Jens, Dahl, Niklas
Publicado em 2009

Phenotypic expansion of visceral myopathy associated with ACTG2 tandem base substitution

Por Klar, Joakim, Raykova, Doroteya, Gustafson, Elisabet, Tóthová, Iveta, Ameur, Adam, Wanders, Alkwin, Dahl, Niklas
Publicado no Eur J Hum Genet (2015)

Constitutional downregulation of SEMA5A expression in autism

Por Melin, Malin, Carlsson, Birgit, Anckarsäter, Henrik, Rastam, Maria, Betancur, Catalina, Isaksson, Anders, Gillberg, Christopher, Dahl, Niklas
Publicado em 2006

Targeted Resequencing and Analysis of the Diamond-Blackfan Anemia Disease Locus RPS19

Por Martinez Barrio, Alvaro, Eriksson, Oskar, Badhai, Jitendra, Fröjmark, Anne-Sophie, Bongcam-Rudloff, Erik, Dahl, Niklas, Schuster, Jens
Publicado em 2009

WNT10A missense mutation associated with a complete Odonto-Onycho-Dermal Dysplasia syndrome

Por Nawaz, Sadia, Klar, Joakim, Wajid, Muhammad, Aslam, Muhammad, Tariq, Muhammad, Schuster, Jens, Baig, Shahid Mahmood, Dahl, Niklas
Publicado em 2009

Genome-wide sequencing for the identification of rearrangements associated with Tourette syndrome and obsessive-compulsive disorder

Por Hooper, Sean D, Johansson, Anna CV, Tellgren-Roth, Christian, Stattin, Eva-Lena, Dahl, Niklas, Cavelier, Lucia, Feuk, Lars
Publicado em 2012