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Maitz, Silvia
159  results:
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1

Bi-allelic variants in CELSR3 are implicated in central ner..:

Stegmann, Jil D. ; Kalanithy, Jeshurun C. ; Dworschak, Gabriel C....
npj Genomic Medicine.  9 (2024)  1 - p. , 2024
Link: https://doi.org/10.1038/..
 
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2

DNA methylation profiling in Kabuki syndrome: reclassificat..:

Niceta, Marcello ; Ciolfi, Andrea ; Ferilli, Marco...
European Journal of Human Genetics.  32 (2024)  7 - p. 819-826 , 2024
Link: https://doi.org/10.1038/..
 
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3

Clustered de novo start-loss variants in GLUL result in a d..:

Jones, Amy G. ; Aquilino, Matilde ; Tinker, Rory J....
The American Journal of Human Genetics.  111 (2024)  4 - p. 729-741 , 2024
Link: https://doi.org/10.1016/..
 
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4

CHAMP1-related disorders: pathomechanisms triggered by diff..:

Amenta, Simona ; Marangi, Giuseppe ; Orteschi, Daniela...
European Journal of Human Genetics.  31 (2023)  6 - p. 648-653 , 2023
Link: https://doi.org/10.1038/..
 
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5

Deep phenotyping of the neuroimaging and skeletal features ..:

Peluso, Francesca ; Caraffi, Stefano G ; Contrò, Gianluca...
Journal of Medical Genetics.  60 (2023)  12 - p. 1224-1234 , 2023
Link: https://doi.org/10.1136/..
 
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6

Comparison of first‐tier whole‐exome sequencing with a mult..:

Rosina, Erica ; Pezzani, Lidia ; Apuril, Erika...
Molecular Genetics & Genomic Medicine.  12 (2023)  1 - p. , 2023
Link: https://doi.org/10.1002/..
 
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7

Isolation of Carboxylic Acids and NaOH from Kraft Black Liq..:

Maitz, Silvia ; Wernsperger, Lukas ; Kienberger, Marlene
Membranes.  13 (2023)  1 - p. 92 , 2023
Link: https://doi.org/10.3390/..
 
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8

P267: TSC1/TSC2 mosaicism is found in ∼13% of individuals w..:

Peron, Angela ; Alfano, Rosa Maria ; Moore, Barry...
Genetics in Medicine Open.  1 (2023)  1 - p. 100295 , 2023
Link: https://doi.org/10.1016/..
 
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9

Epilepsy in KAT6A syndrome: Description of two individuals ..:

Troisi, Serena ; Maitz, Silvia ; Severino, Mariasavina...
European Journal of Medical Genetics.  65 (2022)  1 - p. 104380 , 2022
Link: https://doi.org/10.1016/..
 
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10

DNA methylation episignature testing improves molecular dia..:

Kerkhof, Jennifer ; Squeo, Gabriella Maria ; McConkey, Haley...
Genetics in Medicine.  24 (2022)  1 - p. 51-60 , 2022
Link: https://doi.org/10.1016/..
 
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11

Functional correlation of genome‐wide DNA methylation profi..:

Levy, Michael A. ; Relator, Raissa ; McConkey, Haley...
Human Mutation.  43 (2022)  11 - p. 1609-1628 , 2022
Link: https://doi.org/10.1002/..
 
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12

A missense mutation in DDRGK1 gene associated to Shohat‐typ..:

Franceschi, Roberto ; Iascone, Maria ; Maitz, Silvia...
American Journal of Medical Genetics Part A.  188 (2022)  8 - p. 2434-2437 , 2022
Link: https://doi.org/10.1002/..
 
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13

Expanding the Molecular Spectrum of ANKRD11 Gene Defects in..:

Bestetti, Ilaria ; Crippa, Milena ; Sironi, Alessandra...
International Journal of Molecular Sciences.  23 (2022)  11 - p. 5912 , 2022
Link: https://doi.org/10.3390/..
 
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14

SLITRK2 variants associated with neurodevelopmental disorde..:

El Chehadeh, Salima ; Han, Kyung Ah ; Kim, Dongwook...
Nature Communications.  13 (2022)  1 - p. , 2022
Link: https://doi.org/10.1038/..
 
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15

Conversion of carbohydrates to carboxylic acids during hydr..:

Maitz, Silvia ; Siebenhofer, Matthäus ; Kienberger, Marlene
Bioresource Technology Reports.  19 (2022)  - p. 101148 , 2022
Link: https://doi.org/10.1016/..
 
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