Busa, T.
111  Ergebnisse:
Personensuche X
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3

Clinical presentation of PTEN mutations in childhood in the..:

Busa, T. ; Milh, M. ; Degardin, N....
European Journal of Paediatric Neurology.  19 (2015)  2 - p. 188-192 , 2015
 
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6

H syndrome: novel and recurrent mutations in SLC29A3:

Priya, T.P. ; Philip, N. ; Molho-Pessach, V....
British Journal of Dermatology.  162 (2010)  5 - p. 1132-1134 , 2010
 
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7

Hygiene of nasal masks used at home for non-invasive ventil..:

Busa, T. ; Stremler-Le Bel, N. ; Bosdure, E....
Journal of Hospital Infection.  76 (2010)  2 - p. 187-188 , 2010
 
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8

Natural history of NF1 c.2970_2972del p.(Met992del): confir..:

Forde, C ; Burkitt-Wright, E ; Turnpenny, PD...
https://openaccess.sgul.ac.uk/id/eprint/113939/1/s41431-021-01015-4.pdf.  , 2022
 
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9

Growth charts in Cockayne syndrome type 1 and type 2:

Baer, S ; Tuzin, N ; Kang, PB...
Baer , S , Tuzin , N , Kang , PB , Mohammed , S , Kubota , M , van Ierland , Y , Busa , T , Rossi , M , Morel , G , Michot , C , Baujat , G , Durand , M , Obringer , C , Le May , N , Calmels , N & Laugel , V 2021 , ' Growth charts in Cockayne syndrome type 1 and type 2 ' , European Journal of Medical Genetics , vol. 64 , no. 1 , 104105 . https://doi.org/10.1016/j.ejmg.2020.104105.  , 2021
 
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10

Effects of eight neuropsychiatric copy number variants on h..:

Modenato C ; Kumar K ; Moreau C...
info:eu-repo/semantics/altIdentifier/pmid/34285187.  , 2021
 
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11

Disentangling molecular and clinical stratification pattern..:

Tebani, A ; Sudrié-Arnaud, B ; Dabaj, I...
https://discovery.ucl.ac.uk/id/eprint/10126669/1/Tebani_et_2021_JMG.pdf.  , 2021
 
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13

Genetic contributors to risk of schizophrenia in the presen..:

Cleynen I ; Engchuan W ; Hestand M. S...
info:eu-repo/semantics/altIdentifier/pmid/32015465.  , 2020
 
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14

Biological concepts in human sodium channel epilepsies and ..:

Brunklaus, A ; Du, J ; Steckler, F...
https://discovery.ucl.ac.uk/id/eprint/10093116/3/Schorge_1Brunklaus%20Main_Manuscript%20for%20uploading.pdf.  , 2020
 
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15

Germline AGO2 mutations impair RNA interference and human n..:

Lessel, D ; Zeitler, D.M ; Reijnders, M.R.F...
Lessel , D , Zeitler , D M , Reijnders , M R F , Kazantsev , A , Nia , F H , Bartholomaus , A , Martens , V , Bruckmann , A , Graus , V , McConkie-Rosell , A , McDonald , M , Lozic , B , Tan , E S , Gerkes , E , Johannsen , J , Denecke , J , Telegrafi , A , Zonneveld-Huijssoon , E , Lemmink , H H , Cham , B W M , Kovacevic , T , Ramsdell , L , Foss , K , Le Duc , D , Mitter , D , Syrbe , S , Merkenschlager , A , Sinnema , M , Panis , B , Lazier , J , Osmond , M , Hartley , T , Mortreux , J , Busa , T , Missirian , C , Prasun , P , Luttgen , S , Mannucci , I , Lessel , I , Schob , C , Kindler , S , Pappas , J , Rabin , R , Willemsen , M , Gardeitchik , T , Lohner , K , Rump , P , Dias , K R , Evans , C A , Andrews , P I & Kreienkamp , H-J 2020 , ' Germline AGO2 mutations impair RNA interference and human neurological development ' , Nature Communications , vol. 11 , no. 1 , 5797 . https://doi.org/10.1038/s41467-020-19572-5.  , 2020
 
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