| | Title | Authors / Editors | Date |
|
unige:34276 |
Analysis of the Born in Bradford birth cohort |
Makrythanasis, Periklis; Hamamy, Hanan; Antonarakis, Stylianos; Mauron, Alex; Hurst, Samia |
2014 |
|
unige:42302 |
Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families |
Makrythanasis, Periklis; Nelis, Mari; Santoni, Federico; Guipponi, Michel; ... Hamamy, Hanan |
2014 |
|
unige:88995 |
Exome sequencing discloses KALRN homozygous variant as likely cause of intellectual disability and short stature in a consanguineous pedigree |
Makrythanasis, Periklis; Guipponi, Michel; Santoni, Federico; Zaki, Maha; ... Antonarakis, Stylianos |
2016 |
|
unige:42299 |
Exome sequencing reveals a mutation in DMP1 in a family with familial sclerosing bone dysplasia |
Gannagé-Yared, Marie-Hélène; Makrythanasis, Periklis; Chouery, Eliane; Sobacchi, Cristina; ... Mégarbané, André |
2014 |
|
unige:88999 |
Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia |
Makrythanasis, Periklis; Kato, Mitsuhiro; Zaki, Maha S; Saitsu, Hirotomo; ... Murakami, Yoshiko |
2016 |
Hamamy, Hanan
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