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Screening of patients born small for gestational age with the Silver-Russell syndrome phenotype for DLK1 variants
- Aurélie Pham
- , Marie-Laure Sobrier
- & Irène Netchine
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A retrospective analysis of the prevalence of imprinting disorders in Estonia from 1998 to 2016
- Maria Yakoreva
- , Tiina Kahre
- & Katrin Õunap
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Search for cis-acting factors and maternal effect variants in Silver-Russell patients with ICR1 hypomethylation and their mothers
- Lukas Soellner
- , Florian Kraft
- & Thomas Eggermann
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SHOX haploinsufficiency presenting with isolated short long bones in the second and third trimester
- Shwetha Ramachandrappa
- , Abhijit Kulkarni
- & Sahar Mansour
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Article
| Open AccessEvidence for anticipation in Beckwith–Wiedemann syndrome
- Siren Berland
- , Mia Appelbäck
- & Gunnar Houge
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Identification of a Gypsy SHOX mutation (p.A170P) in Léri-Weill dyschondrosteosis and Langer mesomelic dysplasia
- Verónica Barca-Tierno
- , Miriam Aza-Carmona
- & Karen E Heath
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Clinical Utility Gene Card |
Clinical utility gene card for: Silver–Russell syndrome
- Thomas Eggermann
- , Karin Buiting
- & I Karen Temple
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Methylation analysis of 79 patients with growth restriction reveals novel patterns of methylation change at imprinted loci
- Claire Louise Susan Turner
- , Deborah M Mackay
- & I Karen Temple