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PubPharm (313)
71
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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72
Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy
enthalten in:
American journal of human genetics
| 2021
von
Voisin, N.
|
Schnur, R.
|
Douzgou, S.
| +65
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73
Evidence that FGFRL1 contributes to congenital diaphragmatic hernia development in humans
enthalten in:
American journal of medical genetics. Part A
| 2021
von
Gofin, Y.
|
Mackay, L.
|
Machol, K.
| +7
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74
Clinical spectrum and follow-up in six individuals with Lamb-Shaffer syndrome (SOX5)
enthalten in:
American journal of medical genetics. Part A
| 2021
von
Innella, G.
|
Greco, D.
|
Carli, D.
| +7
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75
Electroclinical features and outcome of ANKRD11-related KBG syndrome : A novel report and literature review
enthalten in:
Seizure
| 2021
von
Nardello, R.
|
Mangano, G.
|
Antona, V.
| +6
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76
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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77
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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78
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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79
A high-content drug screening strategy to identify protein level modulators for genetic diseases : A proof-of-principle in autosomal dominant leukodystrophy
enthalten in:
Human mutation
| 2021
von
Giorgio, E.
|
Pesce, E.
|
Pozzi, E.
| +10
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80
Clinical spectrum and follow‐up in six individuals with Lamb–Shaffer syndrome ( SOX5)
enthalten in:
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
| 2021
von
Innella, G.
|
Greco, D.
|
Carli, D.
| +7
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