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Showing 1–5 of 5 results
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Research |
Mutations in the pre-replication complex cause Meier-Gorlin syndrome
- Louise S Bicknell
- , Ernie M H F Bongers
- , Andrea Leitch
- , Stephen Brown
- , Jeroen Schoots
- , Margaret E Harley
- , Salim Aftimos
- , Jumana Y Al-Aama
- , Michael Bober
- , Paul A J Brown
- , Hans van Bokhoven
- , John Dean
- , Alaa Y Edrees
- , Murray Feingold
- , Alan Fryer
- , Lies H Hoefsloot
- , Nikolaus Kau
- , Nine V A M Knoers
- , James MacKenzie
- , John M Opitz
- , Pierre Sarda
- , Alison Ross
- , I Karen Temple
- , Annick Toutain
- , Carol A Wise
- , Michael Wright
- & Andrew P Jackson
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Research |
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Research |
Meier–Gorlin syndrome genotype–phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis
- Sonja A de Munnik
- , Louise S Bicknell
- , Salim Aftimos
- , Jumana Y Al-Aama
- , Yolande van Bever
- , Michael B Bober
- , Jill Clayton-Smith
- , Alaa Y Edrees
- , Murray Feingold
- , Alan Fryer
- , Johanna M van Hagen
- , Raoul C Hennekam
- , Maaike C E Jansweijer
- , Diana Johnson
- , Sarina G Kant
- , John M Opitz
- , A Radha Ramadevi
- , Willie Reardon
- , Alison Ross
- , Pierre Sarda
- , Constance T R M Schrander-Stumpel
- , Jeroen Schoots
- , I Karen Temple
- , Paulien A Terhal
- , Annick Toutain
- , Carol A Wise
- , Michael Wright
- , David L Skidmore
- , Mark E Samuels
- , Lies H Hoefsloot
- , Nine V A M Knoers
- , Han G Brunner
- , Andrew P Jackson
- & Ernie M H F Bongers
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Research |
Genotype–phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathy
- Ernie M H F Bongers
- , Frans T Huysmans
- , Elena Levtchenko
- , Jacky W de Rooy
- , Johan G Blickman
- , Ronald J C Admiraal
- , Patrick L M Huygen
- , Johannes R M Cruysberg
- , Pauline A M P Toolens
- , Judith B Prins
- , Paul F M Krabbe
- , George F Borm
- , Jeroen Schoots
- , Hans van Bokhoven
- , Angela M F van Remortele
- , Lies H Hoefsloot
- , Albert van Kampen
- & Nine V A M Knoers
