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PubPharm (30)
1
The New Modular Sforzesco Brace (Modular Italian Brace) Is as Effective as the Classical One : A Retrospective Controlled Study from a Prospective Cohort
enthalten in:
Journal of clinical medicine
| 2024
von
Negrini, F.
|
Febbo, F.
|
Tessadri, F.
| +5
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2
Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility
enthalten in:
Human genetics
| 2023
von
Leone, M.
|
Morlino, S.
|
Nardella, G.
| +33
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3
Next-Generation Sequencing Advances the Genetic Diagnosis of Cerebral Cavernous Malformation (CCM)
enthalten in:
Antioxidants (Basel, Switzerland)
| 2022
von
Benedetti, V.
|
Canzoneri, R.
|
Perrelli, A.
| +4
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4
Impact of the Free-Pelvis Innovation in Very Rigid Braces for Adolescents with Idiopathic Scoliosis : Short-Term Results of a Matched Case-Control Study
enthalten in:
Children (Basel, Switzerland)
| 2022
von
Negrini, S.
|
Tessadri, F.
|
Negrini, F.
| +4
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5
The Usefulness of a Targeted Next Generation Sequencing Gene Panel in Providing Molecular Diagnosis to Patients With a Broad Spectrum of Neurodevelopmental Disorders
enthalten in:
Frontiers in genetics
| 2022
von
Mellone, S.
|
Puricelli, C.
|
Vurchio, D.
| +16
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6
When to test fetuses for RASopathies? Proposition from a systematic analysis of 352 multicenter cases and a postnatal cohort
enthalten in:
Genetics in medicine : official journal of the American College of Medical Genetics
| 2021
von
Scott, A.
|
Di Giosaffatte, N.
|
Pinna, V.
| +28
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7
KCNK18 Biallelic Variants Associated with Intellectual Disability and Neurodevelopmental Disorders Alter TRESK Channel Activity
enthalten in:
International journal of molecular sciences
| 2021
von
Pavinato, L.
|
Nematian-Ardestani, E.
|
Zonta, A.
| +9
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8
Diagnosis of maternal Hodgkin lymphoma following abnormal findings at noninvasive prenatal screening test (NIPT) : Report of two cases
enthalten in:
Clinical case reports
| 2021
von
Castellino, A.
|
Elba, S.
|
Sorasio, R.
| +15
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9
Atypical microdeletion 22q11.2 in a patient with tetralogy of Fallot
enthalten in:
Journal of genetics
| 2021
von
Carli, D.
|
Moroni, A.
|
Eleonora, D.
| +9
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10
Atypical microdeletion 22q11.2 in a patient with tetralogy of Fallot
enthalten in:
Journal of genetics
| 2021
von
Carli, D.
|
Moroni, A.
|
Eleonora, D.
| +9
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Cytogenetic and genome research
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Scoliosis
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Antioxidants (Basel, Switzerland)
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Research Support, Non-U.S. Gov't
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Autosomal-dominant tubule-interstitial kidney d...
3
MUC1
3
Malignancy
3
Medullary cystic kidney disease
2
22q11.2 deletion
2
DiGeorge syndrome
2
Multicenter Study
2
brace
2
conotruncal defect.
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intellectual disability
2
tetralogy of Fallot
1
12634-43-4
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151186-83-3
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15q13.3 deletion
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56092-81-0
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8J337D1HZY
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9HW64Q8G6G
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Erscheinungszeitraum
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2020-
16
2010-2019
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