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Trimarchi, Gabriele
102
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Online (101)
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Mediatypes
Articles (Online) (47)
OpenAccess-fulltext (53)
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Audio (DVD/CD) (1)
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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/..
?
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/..
?
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/..
?
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/..
?
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..
?
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..
1-15