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Two novel mutations in XYLT2 cause spondyloocular syndrome

Vertaisarvioitu
Avoin saatavuus
DOI
10.1002/ajmg.a.38487
Taylan, Fulya; Abali, Zehra Yavas; Jantti, Nina; Gunes, Nilay; Darendeliler, Feyza; Bas, Firdevs; Po...
American journal of medical genetics. Part A2017

A Novel Homozygous Frameshift Variant in XYLT2 Causes Spondyloocular Syndrome in a Consanguineous Pakistani Family

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Avoin saatavuus
DOI
10.3389/fgene.2019.00144
Kausar, Mehran; Chew, Elaine Guo Yan; Ullah, Hazrat; Anees, Mariam; Khor, Chiea Chuen; Foo, Ia Nee; ...
Frontiers in genetics2019

Spondyloocular Syndrome:Novel Mutations in XYLT2 Gene and Expansion of the Phenotypic Spectrum

Vertaisarvioitu
Avoin saatavuus
DOI
10.1002/jbmr.2834
Taylan, Fulya; Costantini, Alice; Coles, Nicole; Pekkinen, Minna; Heon, Elise; Siklar, Zeynep; Berbe...
Journal of bone and mineral research2016

Dampness and mold hypersensitivity syndrome and vaccination as risk factors for chronic fatigue syndrome

DOI
10.1016/j.autrev.2018.08.004
Tuuminen, Tamara; Jääskeläinen, Tina; Vaali, Kirsi; Polo, Olli
Autoimmunity reviews2019

The circadian syndrome predicts cardiovascular disease better than metabolic syndrome in Chinese adults

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Avoin saatavuus
DOI
10.1111/joim.13204
Shi, Z.; Tuomilehto, J.; Kronfeld-Schor, N.; Alberti, G. K.; Stern, N.; El-Osta, A.; Bilu, C.; Einat...
Journal of internal medicine2021

Parental migration and Asperger's syndrome

Vertaisarvioitu
DOI
10.1007/s00787-014-0643-7
Lehti, Venla;Cheslack-Postava, Keely;Gissler, Mika;Hinkka-Yli-Salomaki, Susanna;Brown, Alan S.;Soura...
european child adolescent psychiatry2015

Histopathology of Exfoliation Syndrome

Vertaisarvioitu
DOI
10.1097/IJG.0000000000000947
Kivelä, Tero T.
Journal of glaucoma2018

Analysis in the Prospective Lynch Syndrome Database identifies sarcoma as part of the Lynch syndrome tumor spectrum

Avoin saatavuus
DOI
10.1002/ijc.33214
PLSD Collaborators; Dominguez-Valentin, Mev; Sampson, Julian R.; Møller, Pål; Seppälä, Toni T.
International journal of cancer2021

Racial and ethnic differences in the prevalence of metabolic syndrome and its components of metabolic syndrome in women with polycystic ovary syndrome: a regional cross-sectional study

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Avoin saatavuus
DOI
10.1016/j.ajog.2017.04.007
Chan, Jessica L.; Kar, Sujata; Vanky, Eszter; Morin-Papunen, Laure; Piltonen, Terhi; Puurunen, Johan...
American journal of obstetrics and gynecology2017

Recessive MYH3 variants cause "Contractures, pterygia, and variable skeletal fusions syndrome 1B" mimicking Escobar variant multiple pterygium syndrome

Vertaisarvioitu
DOI
10.1002/ajmg.a.61836
Hakonen, Anna H.; Lehtonen, Johanna; Kivirikko, Sirpa; Keski-Filppula, Riikka; Moilanen, Jukka; Kivi...
American journal of medical genetics. Part A2020

Two novel mutations in XYLT2 cause spondyloocular syndrome

Vertaisarvioitu
Avoin saatavuus
DOI
10.1002/ajmg.a.38487
2017

A Novel Homozygous Frameshift Variant in XYLT2 Causes Spondyloocular Syndrome in a Consanguineous Pakistani Family

Vertaisarvioitu
Avoin saatavuus
DOI
10.3389/fgene.2019.00144
2019

Spondyloocular Syndrome:Novel Mutations in XYLT2 Gene and Expansion of the Phenotypic Spectrum

Vertaisarvioitu
Avoin saatavuus
DOI
10.1002/jbmr.2834
2016

Dampness and mold hypersensitivity syndrome and vaccination as risk factors for chronic fatigue syndrome

DOI
10.1016/j.autrev.2018.08.004
2019

The circadian syndrome predicts cardiovascular disease better than metabolic syndrome in Chinese adults

Vertaisarvioitu
Avoin saatavuus
DOI
10.1111/joim.13204
2021

Parental migration and Asperger's syndrome

Vertaisarvioitu
DOI
10.1007/s00787-014-0643-7
2015

Histopathology of Exfoliation Syndrome

Vertaisarvioitu
DOI
10.1097/IJG.0000000000000947
2018

Analysis in the Prospective Lynch Syndrome Database identifies sarcoma as part of the Lynch syndrome tumor spectrum

Avoin saatavuus
DOI
10.1002/ijc.33214
2021

Racial and ethnic differences in the prevalence of metabolic syndrome and its components of metabolic syndrome in women with polycystic ovary syndrome: a regional cross-sectional study

Vertaisarvioitu
Avoin saatavuus
DOI
10.1016/j.ajog.2017.04.007
2017

Recessive MYH3 variants cause "Contractures, pterygia, and variable skeletal fusions syndrome 1B" mimicking Escobar variant multiple pterygium syndrome

Vertaisarvioitu
DOI
10.1002/ajmg.a.61836
2020