Caraffi, Stefano G
66  results:
?
 
?
8

The clinical and molecular spectrum of the KDM6B-related ne..:

Rots, Dmitrijs ; Jakub, Taryn E ; Keung, Crystal...
Genomics England Research Consortium , Rots , D , Jakub , T E , Keung , C , Jackson , A , Banka , S , Pfundt , R , de Vries , B B A , van Jaarsveld , R H , Hopman , S M J , van Binsbergen , E , Valenzuela , I , Hempel , M , Bierhals , T , Kortüm , F , Lecoquierre , F , Goldenberg , A , Hertz , J M , Andersen , C B , Kibæk , M , Prijoles , E J , Stevenson , R E , Everman , D B , Patterson , W G , Meng , L , Gijavanekar , C , De Dios , K , Lakhani , S , Levy , T , Wagner , M , Wieczorek , D , Benke , P J , Lopez Garcia , M S , Perrier , R , Sousa , S B , Simões , M J , Isidor , B , Deb , W , Schmanski , A A , Abdul-Rahman , O , Philippe , C , Bruel , A-L , Faivre , L , Vitobello , A , Thauvin , C , Smits , J J , Garavelli , L , Caraffi , S G , Peluso , F , Davis-Keppen , L & Douzgou , S 2023 , ' The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder ' , American Journal of Human Genetics , vol. 110 , no. 6 , pp. 963-978 . http....  , 2023
 
?
9

The clinical and molecular spectrum of the KDM6B-related ne..:

Rots, Dmitrijs ; Jakub, Taryn E ; Keung, Crystal...
https://research.rug.nl/en/publications/18b4956f-e2da-4d33-93c3-8960ffb32c70.  , 2023
 
?
11

Mowat-Wilson syndrome:growth charts:

Ivanovski, Ivan ; Djuric, Olivera ; Broccoli, Serena...
Ivanovski , I , Djuric , O , Broccoli , S , Caraffi , S G , Accorsi , P , Adam , M P , Avela , K , Badura-Stronka , M , Bayat , A , Clayton-Smith , J , Cocco , I , Cordelli , D M , Cuturilo , G , Di Pisa , V , Dupont Garcia , J , Gastaldi , R , Giordano , L , Guala , A , Hoei-Hansen , C , Inaba , M , Iodice , A , Nielsen , J E K , Kuburovic , V , Lazalde-Medina , B , Malbora , B , Mizuno , S , Moldovan , O , Møller , R S , Muschke , P , Otelli , V , Pantaleoni , C , Piscopo , C , Poch-Olive , M L , Prpic , I , Marín Reina , P , Raviglione , F , Ricci , E , Scarano , E , Simonte , G , Smigiel , R , Tanteles , G , Tarani , L , Trimouille , A , Valera , E T , Schrier Vergano , S , Writzl , K , Callewaert , B , Savasta , S , Street , M E , Iughetti , L , Bernasconi , S , Giorgi Rossi , P & Garavelli , L 2020 , ' Mowat-Wilson syndrome : growth charts ' , Orphanet Journal of Rare Diseases , vol. 15 , 151 . https://doi.org/10.1186/s13023-020-01418-4.  , 2020
 
?
12

Expanding the phenotype of Wiedemann-Steiner syndrome:Crani..:

Giangiobbe, Sara ; Caraffi, Stefano Giuseppe ; Ivanovski, Ivan...
Giangiobbe , S , Caraffi , S G , Ivanovski , I , Maini , I , Pollazzon , M , Rosato , S , Trimarchi , G , Lauriello , A , Marinelli , M , Nicoli , D , Baldo , C , Laurie , S , Flores-Daboub , J , Provenzano , A , Andreucci , E , Peluso , F , Rizzo , R , Stewart , H , Lachlan , K , Bayat , A , Napoli , M , Carboni , G , Baker , J , Mendel , A , Piatelli , G , Pantaleoni , C , Mattina , T , Prontera , P , Mendelsohn , N J , Giglio , S , Zuffardi , O & Garavelli , L 2020 , ' Expanding the phenotype of Wiedemann-Steiner syndrome : Craniovertebral junction anomalies ' , American Journal of Medical Genetics, Part A , vol. 182 , no. 12 , pp. 2877-2886 . https://doi.org/10.1002/ajmg.a.61859.  , 2020
 
?
13

Phenotype and genotype of 87 patients with Mowat-Wilson syn..:

Ivanovski, Ivan ; Djuric, Olivera ; Caraffi, Stefano Giuseppe...
Ivanovski , I , Djuric , O , Caraffi , S G , Santodirocco , D , Pollazzon , M , Rosato , S , Cordelli , D M , Abdalla , E , Accorsi , P , Adam , M P , Ajmone , P F , Badura-Stronka , M , Baldo , C , Baldi , M , Bayat , A , Bigoni , S , Bonvicini , F , Breckpot , J , Callewaert , B , Cocchi , G , Cuturilo , G , De Brasi , D , Devriendt , K , Dinulos , M B , Hjortshøj , T D , Epifanio , R , Faravelli , F , Fiumara , A , Formisano , D , Giordano , L , Grasso , M , Grønborg , S , Iodice , A , Iughetti , L , Kuburovic , V , Kutkowska-Kazmierczak , A , Lacombe , D , Lo Rizzo , C , Luchetti , A , Malbora , B , Mammi , I , Mari , F , Montorsi , G , Moutton , S , Møller , R S , Muschke , P , Nielsen , J E K , Obersztyn , E , Pantaleoni , C & Pellicciari , A 2018 , ' Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care ' , Genetics in Medicine , vol. 20 , no. 9 , pp. 965-975 . https://doi.org/10.1038/gim.2017.221.  , 2018
 
?
14

Neuroimaging findings in Mowat-Wilson syndrome:a study of 5..:

Garavelli, Livia ; Ivanovski, Ivan ; Caraffi, Stefano Giuseppe...
Garavelli , L , Ivanovski , I , Caraffi , S G , Santodirocco , D , Pollazzon , M , Cordelli , D M , Abdalla , E , Accorsi , P , Adam , M P , Baldo , C , Bayat , A , Belligni , E , Bonvicini , F , Breckpot , J , Callewaert , B , Cocchi , G , Cuturilo , G , Devriendt , K , Dinulos , M B , Djuric , O , Epifanio , R , Faravelli , F , Formisano , D , Giordano , L , Grasso , M , Grønborg , S , Iodice , A , Iughetti , L , Lacombe , D , Maggi , M , Malbora , B , Mammi , I , Moutton , S , Møller , R S , Muschke , P , Napoli , M , Pantaleoni , C , Pascarella , R , Pellicciari , A , Poch-Olive , M L , Raviglione , F , Rivieri , F , Russo , C , Savasta , S , Scarano , G , Selicorni , A , Silengo , M , Sorge , G , Tarani , L , Tone , L G , Toutain , A , Trimouille , A , Valera , E T , Vergano , S S , Zanotta , N , Zollino , M , Dobyns , W B & Paciorkowski , A R 2017 , ' Neuroimaging findings in Mowat-Wilson syndrome : a study of 54 patients ' , Genetics in Medicine , vol.....  , 2017
 
1-15