Paciorkowski, Alex P
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1

7q11.23 Duplication syndrome: Physical characteristics and ..:

Morris, Colleen A. ; Mervis, Carolyn B. ; Paciorkowski, Alex P....
American Journal of Medical Genetics Part A.  167 (2015)  12 - p. 2916-2935 , 2015
 
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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
 
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Mendelian etiologies identified with whole exome sequencing..:

Chopra, Maya ; Gable, Dustin L. ; Love‐Nichols, Jamie...
Annals of Clinical and Translational Neurology.  9 (2022)  2 - p. 193-205 , 2022
 
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A diagnostic confidence scheme for CLN3 disease:

Masten, Margaux C. ; Corre, Camille ; Paciorkowski, Alex R....
Journal of Inherited Metabolic Disease.  44 (2021)  6 - p. 1453-1462 , 2021
 
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Ode to the humble Southern blot in the era of exomes:

Paciorkowski, Alex R.
Neurology Clinical Practice.  8 (2018)  1 - p. 4-5 , 2018
 
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