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Caraffi, Stefano Giuseppe
107  Ergebnisse:
Personensuche X
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1

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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2

Clinico-biological refinement of BCL11B-related disorder an..:

Sabbagh, Quentin ; Haghshenas, Sadegheh ; Piard, Juliette...
Genetics in Medicine.  26 (2024)  1 - p. 101007 , 2024
Link: https://doi.org/10.1016/..
 
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3

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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4

A novel TRIP4 Variant Associated with Peripheral Neuropathy..:

Frongia, Ivana ; Spagnoli, Carlotta ; Rizzi, Susanna...
Journal of Neuromuscular Diseases.  11 (2024)  1 - p. 213-219 , 2024
Link: https://doi.org/10.3233/..
 
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5

Genetic Epilepsies and Developmental Epileptic Encephalopat..:

Cavirani, Benedetta ; Spagnoli, Carlotta ; Caraffi, Stefano Giuseppe...
International Journal of Molecular Sciences.  25 (2024)  2 - p. 1248 , 2024
Link: https://doi.org/10.3390/..
 
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6

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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7

Prenatal Clinical Findings in RASA1-Related Capillary Malfo..:

Coccia, Emanuele ; Valeri, Lara ; Zuntini, Roberta...
Genes.  14 (2023)  3 - p. 549 , 2023
Link: https://doi.org/10.3390/..
 
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8

Diprosopus: A Rare Case of Craniofacial Duplication and a S..:

Trevisani, Viola ; Balestri, Eleonora ; Napoli, Manuela...
Genes.  14 (2023)  9 - p. 1745 , 2023
Link: https://doi.org/10.3390/..
 
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9

Case Report: Sequential postzygotic HRAS mutation and gains..:

Zuntini, Roberta ; Cattani, Chiara ; Pedace, Lucia...
Frontiers in Genetics.  14 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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10

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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11

Identification of bi‐allelic LFNG variants in three patient..:

Lecca, Mauro ; Bedeschi, Maria Francesca ; Izzi, Claudia...
Clinical Genetics.  104 (2023)  2 - p. 230-237 , 2023
Link: https://doi.org/10.1111/..
 
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12

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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13

MCPH1: A Novel Case Report and a Review of the Literature:

Caraffi, Stefano Giuseppe ; Pollazzon, Marzia ; Farooq, Muhammad...
Genes.  13 (2022)  4 - p. 634 , 2022
Link: https://doi.org/10.3390/..
 
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14

Clinical and Molecular Diagnosis of Osteocraniostenosis in ..:

Rosato, Simonetta ; Unger, Sheila ; Campos-Xavier, Belinda...
Genes.  13 (2022)  2 - p. 261 , 2022
Link: https://doi.org/10.3390/..
 
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15

ANKLE2‐related microcephaly: A variable microcephaly syndro..:

Thomas, Ajay X. ; Link, Nichole ; Robak, Laurie A....
Annals of Clinical and Translational Neurology.  9 (2022)  8 - p. 1276-1288 , 2022
Link: https://doi.org/10.1002/..
 
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