Search

ISSN 1018-4813

1. 19p13 microduplications encompassing NFIX are responsible for intellectual disability, short stature and small head circumference. (January 2018)

Authors:
Trimouille, Aurélien; Houcinat, Nada; Vuillaume, Marie-Laure; Fergelot, Patricia; Boucher, Cécile; Toutain, Jérôme; Caignec, Cédric; Vincent, Marie; Nizon, Mathilde; Andrieux, Joris; Vanlerberghe, Clémence; Delobel, Bruno; Duban, Bénédicte; Mansour, Sahar; Baple, Emma; McKeown, Colina; Poke, Gemm...
Journal:
European journal of human genetics
Issue:
Volume 26:Number 1(2018)
Page Start:
85
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

3. A genome-wide search for new imprinted genes in the human placenta identifies DSCAM as the first imprinted gene on chromosome 21. (January 2019)

Authors:
Allach El Khattabi, Laïla; Backer, Stéphanie; Pinard, Amélie; Dieudonné, Marie-Noëlle; Tsatsaris, Vassilis; Vaiman, Daniel; Dandolo, Luisa; Bloch-Gallego, Evelyne; Jammes, Hélène; Barbaux, Sandrine
Journal:
European journal of human genetics
Issue:
Volume 27:Number 1(2019)
Page Start:
49
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

4. A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency. (January 2018)

Authors:
Jansen, Sandra; Hoischen, Alexander; Coe, Bradley; Carvill, Gemma; Esch, Hilde; Bosch, Daniëlle; Andersen, Ulla; Baker, Carl; Bauters, Marijke; Bernier, Raphael; Bon, Bregje; Claahsen-van der Grinten, Hedi; Gecz, Jozef; Gilissen, Christian; Grillo, Lucia; Hackett, Anna; Kleefstra, Tjitske; Koolen...
Journal:
European journal of human genetics
Issue:
Volume 26:Number 1(2018)
Page Start:
54
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

5. A novel homozygous ARL13B variant in patients with Joubert syndrome impairs its guanine nucleotide-exchange factor activity. (December 2017)

Authors:
Rafiullah, Rafiullah; Long, Alyssa; Ivanova, Anna; Ali, Hazrat; Berkel, Simone; Mustafa, Ghulam; Paramasivam, Nagarajan; Schlesner, Matthias; Wiemann, Stefan; Wade, Rebecca; Bolthauser, Eugen; Blum, Martin; Kahn, Richard; Caspary, Tamara; Rappold, Gudrun
Journal:
European journal of human genetics
Issue:
Volume 25:Number 12(2017)
Page Start:
1324
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

6. A patient-specific induced pluripotent stem cell model for West syndrome caused by ST3GAL3 deficiency. (December 2018)

Authors:
Diepen, Laura; Buettner, Falk; Hoffmann, Dirk; Thiesler, Christina; von Bohlen und Halbach, Oliver; von Bohlen und Halbach, Viola; Jensen, Lars; Steinemann, Doris; Edvardson, Simon; Elpeleg, Orly; Schambach, Axel; Gerardy-Schahn, Rita; Kuss, Andreas
Journal:
European journal of human genetics
Issue:
Volume 26:Number 12(2018)
Page Start:
1773
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

7. A study of Kibbutzim in Israel reveals risk factors for cardiometabolic traits and subtle population structure. (December 2018)

Authors:
Granot-Hershkovitz, Einat; Karasik, David; Friedlander, Yechiel; Rodriguez-Murillo, Laura; Dorajoo, Rajkumar; Liu, Jianjun; Sewda, Anshuman; Peter, Inga; Carmi, Shai; Hochner, Hagit
Journal:
European journal of human genetics
Issue:
Volume 26:Number 12(2018)
Page Start:
1848
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗