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Trimarchi, Gabriele
102  results:
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1

Heterozygous truncating variant of TAOK1 in a boy with peri..:

Cavalli, Anna ; Caraffi, Stefano Giuseppe ; Rizzi, Susanna...
BMC Medical Genomics.  17 (2024)  1 - p. , 2024
Link: https://doi.org/10.1186/..
 
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2

Split Hand-Foot and Deafness in a Patient with 7q21.13-q21...:

Ambrosetti, Irene ; Bernardini, Laura ; Pollazzon, Marzia...
Genes.  14 (2023)  8 - p. 1526 , 2023
Link: https://doi.org/10.3390/..
 
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3

Severe Neurodevelopmental Disorder in Autosomal Recessive S..:

Cesaroni, Carlo Alberto ; Pisanò, Giulia ; Trimarchi, Gabriele...
The Cerebellum.  , 2023
Link: https://doi.org/10.1007/..
 
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4

Case report: Expanding the phenotype of FOXP1-related intel..:

Cesaroni, Carlo Alberto ; Pollazzon, Marzia ; Mancini, Cecilia...
Frontiers in Neurology.  14 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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5

ALG8‐CDG: Molecular and phenotypic expansion suggests clini..:

Albokhari, Daniah ; Ng, Bobby G. ; Guberinic, Alis...
Journal of Inherited Metabolic Disease.  45 (2022)  5 - p. 969-980 , 2022
Link: https://doi.org/10.1002/..
 
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6

Adducted Thumb and Peripheral Polyneuropathy: Diagnostic Su..:

Trimarchi, Gabriele ; Caraffi, Stefano Giuseppe ; Radio, Francesca Clementina...
Genes.  12 (2021)  7 - p. 950 , 2021
Link: https://doi.org/10.3390/..
 
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7

A case series of adult patients affected by EAST/SeSAME syn..:

Suzumoto, Yoko ; Columbano, Valeria ; Gervasi, Luciano...
Intractable & Rare Diseases Research.  10 (2021)  2 - p. 95-101 , 2021
Link: https://doi.org/10.5582/..
 
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8

A monoallelicSEC23AvariantE599Kassociated withcranio‐lentic..:

Cisarova, Katarina ; Garavelli, Livia ; Caraffi, Stefano Giuseppe...
American Journal of Medical Genetics Part A.  188 (2021)  1 - p. 319-325 , 2021
Link: https://doi.org/10.1002/..
 
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9

Whole Exome Sequencing Is the Minimal Technological Approac..:

Peluso, Francesca ; Caraffi, Stefano Giuseppe ; Zuntini, Roberta...
Genes.  12 (2021)  7 - p. 962 , 2021
Link: https://doi.org/10.3390/..
 
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10

Severe intellectual disability, absence of language, epilep..:

Rizzi, Susanna ; Spagnoli, Carlotta ; Salerno, Grazia Gabriella...
American Journal of Medical Genetics Part A.  182 (2020)  11 - p. 2675-2679 , 2020
Link: https://doi.org/10.1002/..
 
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11

Expanding the phenotype of Wiedemann‐Steiner syndrome: Cran..:

Giangiobbe, Sara ; Caraffi, Stefano Giuseppe ; Ivanovski, Ivan...
American Journal of Medical Genetics Part A.  182 (2020)  12 - p. 2877-2886 , 2020
Link: https://doi.org/10.1002/..
 
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12

Improving the phenotype description of Basel-Vanagaite-Smir..:

Maini, Ilenia ; Errichiello, Edoardo ; Caraffi, Stefano Giuseppe...
neurogenetics.  22 (2020)  1 - p. 19-25 , 2020
Link: https://doi.org/10.1007/..
 
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13

Lessons from two series by physicians and caregivers' self‐..:

Ruault, Valentin ; Burger, Pauline ; Gradels-Hauguel, Johanna...
info:eu-repo/semantics/altIdentifier/doi/10.1002/mgg3.2363.  , 2024
Link: https://cnrs.hal.science..
 
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14

Lessons from two series by physicians and caregivers' self‐..:

Ruault, Valentin ; Burger, Pauline ; Gradels-Hauguel, Johanna...
info:eu-repo/semantics/altIdentifier/doi/10.1002/mgg3.2363.  , 2024
Link: https://cnrs.hal.science..
 
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15

Lessons from two series by physicians and caregivers' self‐..:

Ruault, Valentin ; Burger, Pauline ; Gradels-Hauguel, Johanna...
info:eu-repo/semantics/altIdentifier/doi/10.1002/mgg3.2363.  , 2024
Link: https://cnrs.hal.science..
 
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