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PubPharm (258)
1
Adolescent gender dysphoria management : position paper from the Italian Academy of Pediatrics, the Italian Society of Pediatrics, the Italian Society for Pediatric Endocrinology and Diabetes, the Italian Society of Adolescent Medicine and the Italian Society of Child and Adolescent Neuropsychiatry
enthalten in:
Italian journal of pediatrics
| 2024
von
Calcaterra, V.
|
Tornese, G.
|
Zuccotti, G.
| +79
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2
DNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variants
enthalten in:
HGG advances
| 2024
von
van der Laan, L.
|
Lauffer, P.
|
Rooney, K.
| +31
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3
Revisiting iron overload status and change thresholds as predictors of mortality in transfusion-dependent β-thalassemia : a 10-year cohort study
enthalten in:
Annals of hematology
| 2024
von
Musallam, K.
|
Barella, S.
|
Origa, R.
| +7
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4
Pretransfusion hemoglobin level and mortality in adults with transfusion-dependent β-thalassemia
enthalten in:
Blood
| 2024
von
Musallam, K.
|
Barella, S.
|
Origa, R.
| +6
CommentIn: Blood. 2024 Mar 7;143(10):842-844. - PMID 38451517
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5
Identification of the DNA methylation signature of Mowat-Wilson syndrome
enthalten in:
European journal of human genetics : EJHG
| 2024
von
Caraffi, S.
|
van der Laan, L.
|
Rooney, K.
| +21
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6
'Phenoconversion' in adult patients with β-thalassemia
enthalten in:
American journal of hematology
| 2024
von
Musallam, K.
|
Barella, S.
|
Origa, R.
| +12
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7
The somatic p.T81dup variant in AKT3 gene underlies a mild cerebral phenotype and expands the spectrum including capillary malformation and lateralized overgrowth
enthalten in:
Genes, chromosomes & cancer
| 2023
von
Luca, M.
|
Piglionica, M.
|
Bagnulo, R.
| +9
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8
Clinical exome sequencing efficacy and phenotypic expansions involving anomalous pulmonary venous return
enthalten in:
European journal of human genetics : EJHG
| 2023
von
Huth, E.
|
Zhao, X.
|
Owen, N.
| +29
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9
Electroclinical Features of Epilepsy in Kleefstra Syndrome
enthalten in:
Neuropediatrics
| 2023
von
Giacomini, T.
|
Cordani, R.
|
Bagnasco, I.
| +15
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10
Work-Up and Treatment Strategies for Individuals with PIK3CA-Related Disorders : A Consensus of Experts from the Scientific Committee of the Italian Macrodactyly and PROS Association
enthalten in:
Genes
| 2023
von
Gazzin, A.
|
Leoni, C.
|
Viscogliosi, G.
| +12
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American journal of medical genetics. Part A
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Biology of sex differences
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Noonan syndrome
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Beckwith-Wiedemann syndrome
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Multicenter Study
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EC 3.1.3.48
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PTPN11 protein, human
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Protein Tyrosine Phosphatase, Non-Receptor Type 11
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Comment
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EC 3.6.5.2
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