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PubPharm (46)
1
Pre-implantation Genetic Testing in Inherited Metabolic Diseases? Stateof- the-art and current challenges
enthalten in:
Endocrine, metabolic & immune disorders drug targets
| 2023
von
Capela, A.
|
Cunha, A.
|
Fortuna, A.
| +1
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2
Diagnostic accuracy and the first genotype-phenotype correlation in glycogen storage disease type V
enthalten in:
Pediatric research
| 2023
von
Da Silva, J.
|
Pereira, .
|
Soares, A.
| +13
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3
An SPG7 mutation as a novel cause of monogenic progressive muscular atrophy
enthalten in:
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
| 2023
von
Pereira, .
|
Tkachenko, N.
|
Fortuna, A.
| +3
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4
Genetic counseling and carrier screening in candidates for gamete donation at a Portuguese center
enthalten in:
JBRA assisted reproduction
| 2023
von
Soares, C.
|
Tkachenko, N.
|
Vale-Fernandes, E.
| +6
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5
Predicting factors of neurodevelopmental performance in children with phenylketonuria
enthalten in:
American journal of medical genetics. Part A
| 2023
von
Azevedo Soares, C.
|
Ferreira Almeida, M.
|
Soares, G.
| +3
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6
An SPG7 mutation as a novel cause of monogenic progressive muscular atrophy
enthalten in:
Neurological sciences
| 2023
von
Pereira, .
|
Tkachenko, N.
|
Fortuna, A.
| +3
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7
An SPG7 mutation as a novel cause of monogenic progressive muscular atrophy
enthalten in:
Neurological sciences
| 2023
von
Pereira, .
|
Tkachenko, N.
|
Fortuna, A.
| +3
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8
An SPG7 mutation as a novel cause of monogenic progressive muscular atrophy
enthalten in:
Neurological sciences
| 2023
von
Pereira, .
|
Tkachenko, N.
|
Fortuna, A.
| +3
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9
Predicting factors of neurodevelopmental performance in children with phenylketonuria
enthalten in:
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
| 2023
von
Azevedo Soares, C.
|
Ferreira Almeida, M.
|
Soares, G.
| +3
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10
A Novel Frameshift CHD4 Variant Leading to Sifrim-Hitz-Weiss Syndrome in a Proband with a Subclinical Familial t(17;19) and a Large dup(2)(q14.3q21.1)
enthalten in:
Biomedicines
| 2022
von
Da Silva, J.
|
Oliva-Teles, N.
|
Tkachenko, N.
| +4
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6
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31C4KY9ESH
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Motor neuron degeneration
4
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4
Nitric Oxide
4
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4
SPG7
3
7q33 CNVs
3
Comparative Study
3
Continuous positive airway pressure (CPAP)
3
Duplication
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Home sleep apnea test
3
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3
Primary healthcare
3
Randomized Controlled Trial
3
Screening model
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2
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2020-
23
2010-2019
4
2000-2009
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