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HIDEA syndrome is caused by biallelic, pathogenic, rare or founder P4HTM variants impacting the active site or the overall stability of the P4H-TM protein

Vertaisarvioitu
Avoin saatavuus
DOI
10.1111/cge.14203
Kraatari-Tiri, Minna; Soikkonen, Leila; Myllykoski, Matti; Jamshidi, Yalda; Karimiani, Ehsan G; Komu...
Clinical genetics2022

Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities (HIDEA syndrome)

Vertaisarvioitu
Avoin saatavuus
DOI
10.1038/s41436-019-0503-4
Rahikkala, Elisa; Myllykoski, Matti; Hinttala, Reetta; Vieira, Paivi; Nayebzadeh, Naemeh; Weiss, Sim...
Genetics in medicine2019

HIDEA syndrome is caused by biallelic, pathogenic, rare or founder P4HTM variants impacting the active site or the overall stability of the P4H-TM protein

Vertaisarvioitu
Kraatari-Tiri M; Soikkonen L; Myllykoski M; Jamshidi Y; Karimiani EG; Komulainen-Ebrahim J; Kallanka...
Clinical Genetics (copenhagen)2022

Clinical characterization, genetic mapping and whole-genome sequence analysis of a novel autosomal recessive intellectual disability syndrome

Vertaisarvioitu
DOI
10.1016/j.ejmg.2014.07.002
Kaasinen, Eevi; Rahikkala, Elisa; Koivunen, Peppi; Miettinen, Sirpa; Wamelink, Mirjam M. C.; Aavikko...
European journal of medical genetics2014

HIDEA syndrome is caused by biallelic, pathogenic, rare or founder P4HTM variants impacting the active site or the overall stability of the P4H-TM protein

Vertaisarvioitu
Avoin saatavuus
DOI
10.1111/cge.14203
2022

Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities (HIDEA syndrome)

Vertaisarvioitu
Avoin saatavuus
DOI
10.1038/s41436-019-0503-4
2019

HIDEA syndrome is caused by biallelic, pathogenic, rare or founder P4HTM variants impacting the active site or the overall stability of the P4H-TM protein

Vertaisarvioitu
2022

Clinical characterization, genetic mapping and whole-genome sequence analysis of a novel autosomal recessive intellectual disability syndrome

Vertaisarvioitu
DOI
10.1016/j.ejmg.2014.07.002
2014