Sukalo, Maja
24  results:
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1

Adams–Oliver syndrome caused by mutations ofthe EOGT gene:

Schröder, Kim C. ; Duman, Duygu ; Tekin, Mustafa...
American Journal of Medical Genetics Part A.  179 (2019)  11 - p. 2246-2251 , 2019
 
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3

Expanding the mutational spectrum in Johanson‐Blizzard synd..:

Sukalo, Maja ; Schäflein, Eva ; Schanze, Ina...
Molecular Genetics & Genomic Medicine.  5 (2017)  6 - p. 774-780 , 2017
 
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Syndromic scalp defects 

genotype-phenotype studies in Johanson-Blizzard syndrome an... 
Sukalo, Maja , 2016
 
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9

Case reports & correspondence:

Sriram, P. ; Balachandar, B. V. ; Raja, Antenioe Jude...
Indian Pediatrics.  50 (2013)  5 - p. 505-525 , 2013
 
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10

Elucidating the genetic architecture of Adams–Oliver syndro..:

Meester, Josephina A.N ; Sukalo, Maja ; Schröder, Kim C...
Meester , J A N , Sukalo , M , Schröder , K C , Schanze , D , Baynam , G , Borck , G , Bramswig , N C , Duman , D , Gilbert-Dussardier , B , Holder-Espinasse , M , Itin , P , Johnson , D S , Joss , S , Koillinen , H , McKenzie , F , Morton , J , Nelle , H , Reardon , W , Roll , C , Salih , M A , Savarirayan , R , Scurr , I , Splitt , M , Thompson , E , Titheradge , H , Travers , C P , Van Maldergem , L , Whiteford , M , Wieczorek , D , Vandeweyer , G , Trembath , R , Van Laer , L , Loeys , B L , Zenker , M , Southgate , L & Wuyts , W 2018 , ' Elucidating the genetic architecture of Adams–Oliver syndrome in a large European cohort ' , Human Mutation , vol. 39 , no. 9 , pp. 1246-1261 . https://doi.org/10.1002/humu.23567.  , 2018
 
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11

Elucidating the genetic architecture of Adams–Oliver syndro..:

Meester, Josephina A.N ; Sukalo, Maja ; Schröder, Kim C...
Meester , J A N , Sukalo , M , Schröder , K C , Schanze , D , Baynam , G , Borck , G , Bramswig , N C , Duman , D , Gilbert-Dussardier , B , Holder-Espinasse , M , Itin , P , Johnson , D S , Joss , S , Koillinen , H , McKenzie , F , Morton , J , Nelle , H , Reardon , W , Roll , C , Salih , M A , Savarirayan , R , Scurr , I , Splitt , M , Thompson , E , Titheradge , H , Travers , C P , Van Maldergem , L , Whiteford , M , Wieczorek , D , Vandeweyer , G , Trembath , R , Van Laer , L , Loeys , B L , Zenker , M , Southgate , L & Wuyts , W 2018 , ' Elucidating the genetic architecture of Adams–Oliver syndrome in a large European cohort ' , Human Mutation , vol. 39 , no. 9 , pp. 1246-1261 . https://doi.org/10.1002/humu.23567.  , 2018
 
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15

Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams..:

Meester, Josephina A. N ; Southgate, Laura ; Stittrich, Anna-Barbara...
Meester , J A N , Southgate , L , Stittrich , A-B , Venselaar , H , Beekmans , S J A , den Hollander , N , Bijlsma , E K , den Enden , A H , Verheij , J B G M , Glusman , G , Roach , J C , Lehman , A , Patel , M S , de Vries , B B A , Ruivenkamp , C , Itin , P , Prescott , K , Clarke , S , Trembath , R , Zenker , M , Sukalo , M , Van Laer , L , Loeys , B & Wuyts , W 2015 , ' Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome ' , American Journal of Human Genetics , vol. 97 , no. 3 , pp. 475-482 . https://doi.org/10.1016/j.ajhg.2015.07.015.  , 2015
 
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