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Brusco, Alfredo
458  results:
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1

DNA methylation episignature and comparative epigenomic pro..:

van der Laan, Liselot ; Lauffer, Peter ; Rooney, Kathleen...
Human Genetics and Genomics Advances.  5 (2024)  3 - p. 100289 , 2024
Link: https://doi.org/10.1016/..
 
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2

Blepharophimosis with intellectual disability and Helsmoort..:

Sarli, Camilla ; van der Laan, Liselot ; Reilly, Jack...
American Journal of Medical Genetics Part C: Seminars in Medical Genetics.  , 2024
Link: https://doi.org/10.1002/..
 
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3

Role of the repeat expansion size in predicting age of onse..:

Currò, Riccardo ; Dominik, Natalia ; Facchini, Stefano...
Brain.  147 (2024)  5 - p. 1887-1898 , 2024
Link: https://doi.org/10.1093/..
 
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4

Cognitive dysfunction, social behavior disorder, cerebellar..:

Grassini, Alberto ; Cermelli, Aurora ; Roveta, Fausto...
Neurological Sciences.  45 (2024)  6 - p. 2877-2880 , 2024
Link: https://doi.org/10.1007/..
 
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5

Variant-specific pathophysiological mechanisms of AFF3 diff..:

Bassani, Sissy ; Chrast, Jacqueline ; Ambrosini, Giovanna...
Genome Medicine.  16 (2024)  1 - p. , 2024
Link: https://doi.org/10.1186/..
 
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6

Identification of the DNA methylation signature of Mowat-Wi..:

Caraffi, Stefano Giuseppe ; van der Laan, Liselot ; Rooney, Kathleen...
European Journal of Human Genetics.  32 (2024)  6 - p. 619-629 , 2024
Link: https://doi.org/10.1038/..
 
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7

Correction to: Cognitive dysfunction, social behavior disor..:

Grassini, Alberto ; Cermelli, Aurora ; Roveta, Fausto...
Neurological Sciences.  45 (2024)  6 - p. 2949-2949 , 2024
Link: https://doi.org/10.1007/..
 
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8

Identification of DNA methylation episignature for the inte..:

Karimi, Karim ; Mol, Merel O. ; Haghshenas, Sadegheh...
Genetics in Medicine.  26 (2024)  3 - p. 101041 , 2024
Link: https://doi.org/10.1016/..
 
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9

P657: NSD2 duplication results in distinct phenotype and DN..:

Hilton, Benjamin ; Sadikovic, Bekim ; Brusco, Alfredo...
Genetics in Medicine Open.  1 (2023)  1 - p. 100722 , 2023
Link: https://doi.org/10.1016/..
 
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10

Clinical exome sequencing efficacy and phenotypic expansion..:

Huth, Emily A. ; Zhao, Xiaonan ; Owen, Nichole...
European Journal of Human Genetics.  31 (2023)  12 - p. 1430-1439 , 2023
Link: https://doi.org/10.1038/..
 
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11

Author Correction: Enhancer hijacking at the ARHGAP36 locus..:

Melo, Uirá Souto ; Jatzlau, Jerome ; Prada-Medina, Cesar A....
Nature Communications.  14 (2023)  1 - p. , 2023
Link: https://doi.org/10.1038/..
 
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12

Missense variants in RPH3A cause defects in excitatory syna..:

Pavinato, Lisa ; Stanic, Jennifer ; Barzasi, Marta...
Genetics in Medicine.  25 (2023)  11 - p. 100922 , 2023
Link: https://doi.org/10.1016/..
 
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13

Natural history of MRAS‐related Noonan syndrome: Evidence o..:

Priolo, Manuela ; Mancini, Cecilia ; Radio, Francesca Clementina...
American Journal of Medical Genetics Part C: Seminars in Medical Genetics.  193 (2023)  2 - p. 160-166 , 2023
Link: https://doi.org/10.1002/..
 
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14

Author Correction: Possible association of 16p11.2 copy num..:

Giannuzzi, Giuliana ; Chatron, Nicolas ; Mannik, Katrin...
npj Genomic Medicine.  8 (2023)  1 - p. , 2023
Link: https://doi.org/10.1038/..
 
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15

DNA methylation episignature and comparative epigenomic pro..:

Rooney, Kathleen ; van der Laan, Liselot ; Trajkova, Slavica...
Genetics in Medicine.  25 (2023)  8 - p. 100871 , 2023
Link: https://doi.org/10.1016/..
 
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