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6 in total

1. Clinical utility gene card for: Phosphomannomutase 2 deficiency.

Authors: Jaak Jaeken; Dirk Lefeber; Gert Matthijs
Journal: Eur J Hum Genet Date: 2014-01-15 Impact factor: 4.246

2. Comprehensive population screening in the Ashkenazi Jewish population for recurrent disease-causing variants.

Authors: L Shi; B D Webb; A H Birch; L Elkhoury; J McCarthy; X Cai; K Oishi; L Mehta; G A Diaz; L Edelmann; R Kornreich
Journal: Clin Genet Date: 2016-08-22 Impact factor: 4.438

3. Is there a Mendelian transmission ratio distortion of the c.429_452dup(24bp) polyalanine tract ARX mutation?

Authors: Cheryl Shoubridge; Alison Gardner; Charles E Schwartz; Anna Hackett; Michael Field; Jozef Gecz
Journal: Eur J Hum Genet Date: 2012-04-11 Impact factor: 4.246

4. Targeted disruption of the mouse phosphomannomutase 2 gene causes early embryonic lethality.

Authors: Christian Thiel; Torben Lübke; Gert Matthijs; Kurt von Figura; Christian Körner
Journal: Mol Cell Biol Date: 2006-08 Impact factor: 4.272

Review 5. Glycan evolution in response to collaboration, conflict, and constraint.

Authors: Stevan A Springer; Pascal Gagneux
Journal: J Biol Chem Date: 2013-01-17 Impact factor: 5.157

6. In Vitro Fertilisation (IVF) Associated with Preimplantation Genetic Testing for Monogenic Diseases (PGT-M) in a Romanian Carrier Couple for Congenital Disorder of Glycosylation Type Ia (CDG-Ia): A Case Report.

Authors: Bogdan Doroftei; Loredana Nemtanu; Ovidiu-Dumitru Ilie; Gabriela Simionescu; Iuliu Ivanov; Emil Anton; Maria Puiu; Radu Maftei
Journal: Genes (Basel) Date: 2020-06-25 Impact factor: 4.096

6 in total