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Musante, Luciana
72  results:
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1

Haploinsufficiency as a Foreground Pathomechanism of Poirer..:

Di Stazio, Mariateresa ; Zanus, Caterina ; Faletra, Flavio...
Genes.  14 (2023)  2 - p. 250 , 2023
Link: https://doi.org/10.3390/..
 
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2

A new neurodevelopmental disorder linked to heterozygous va..:

Bayat, Allan ; Liu, Zhenjiang ; Luo, Sheng...
Genetics in Medicine.  25 (2023)  9 - p. 100894 , 2023
Link: https://doi.org/10.1016/..
 
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3

Expanding Phenotype of Poirier–Bienvenu Syndrome: New Evide..:

Orsini, Alessandro ; Santangelo, Andrea ; Bravin, Francesca...
Genes.  13 (2022)  2 - p. 276 , 2022
Link: https://doi.org/10.3390/..
 
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4

Challenging Occam's Razor: Dual Molecular Diagnoses Explain..:

Spedicati, Beatrice ; Morgan, Anna ; Pianigiani, Giulia...
Genes.  13 (2022)  11 - p. 2023 , 2022
Link: https://doi.org/10.3390/..
 
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5

TTC5syndrome: Clinical and molecular spectrum of a severe a..:

Musante, Luciana ; Faletra, Flavio ; Meier, Kolja...
American Journal of Medical Genetics Part A.  188 (2022)  9 - p. 2652-2665 , 2022
Link: https://doi.org/10.1002/..
 
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6

The Genetic Diagnosis of Ultrarare DEEs: An Ongoing Challen..:

Musante, Luciana ; Costa, Paola ; Zanus, Caterina...
Genes.  13 (2022)  3 - p. 500 , 2022
Link: https://doi.org/10.3390/..
 
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7

Neonatal developmental and epileptic encephalopathy due to ..:

Matricardi, Sara ; De Liso, Paola ; Freri, Elena...
Epilepsia.  61 (2020)  11 - p. 2474-2485 , 2020
Link: https://doi.org/10.1111/..
 
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8

Description of a peculiar alternating ictal electroclinical..:

Zanus, Caterina ; Costa, Paola ; Faletra, Flavio...
Epileptic Disorders.  22 (2020)  5 - p. 659-663 , 2020
Link: https://doi.org/10.1684/..
 
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9

Biallelic missense variants in ZBTB11 can cause intellectua..:

Fattahi, Zohreh ; Sheikh, Taimoor I ; Musante, Luciana...
Human Molecular Genetics.  27 (2018)  18 - p. 3177-3188 , 2018
Link: https://doi.org/10.1093/..
 
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10

Genetics of intellectual disability in consanguineous famil..:

Hu, Hao ; Kahrizi, Kimia ; Musante, Luciana...
Molecular Psychiatry.  24 (2018)  7 - p. 1027-1039 , 2018
Link: https://doi.org/10.1038/..
 
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11

Homozygous ARHGEF2 mutation causes intellectual disability ..:

Ravindran, Ethiraj ; Hu, Hao ; Yuzwa, Scott A....
PLOS Genetics.  13 (2017)  4 - p. e1006746 , 2017
Link: https://doi.org/10.1371/..
 
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12

Klüver–Bucy syndrome associated with a recessive variant in..:

Hu, Hao ; Hübner, Christoph ; Lukacs, Zoltan...
European Journal of Human Genetics.  25 (2016)  2 - p. 253-256 , 2016
Link: https://doi.org/10.1038/..
 
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13

Homozygous YME1L1 mutation causes mitochondriopathy with op..:

Hartmann, Bianca ; Wai, Timothy ; Hu, Hao...
eLife.  5 (2016)  - p. , 2016
Link: https://doi.org/10.7554/..
 
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14

Mutations in the histamineN-methyltransferase gene,HNMT, ar..:

Heidari, Abolfazl ; Tongsook, Chanakan ; Najafipour, Reza...
Human Molecular Genetics.  24 (2015)  20 - p. 5697-5710 , 2015
Link: https://doi.org/10.1093/..
 
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15

The Role of a Novel TRMT1 Gene Mutation and Rare GRM1 Gene ..:

Davarniya, Behzad ; Hu, Hao ; Kahrizi, Kimia...
PLOS ONE.  10 (2015)  8 - p. e0129631 , 2015
Link: https://doi.org/10.1371/..
 
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