Detalhe da pesquisa
1.
For better or worse: Governing healthcare organisations in times of financial distress.
Sociol Health Illn
; 2023 Dec 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-38153907
2.
Postnatal Brain Growth Patterns in Pontocerebellar Hypoplasia.
Neuropediatrics
; 52(3): 163-169, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33111306
3.
Does artemether-lumefantrine administration affect mosquito olfactory behaviour and fitness?
Malar J
; 18(1): 28, 2019 Jan 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-30691446
4.
A SEPSECS mutation in a 23-year-old woman with microcephaly and progressive cerebellar ataxia.
J Inherit Metab Dis
; 41(5): 897-898, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29464431
5.
A de novo missense mutation in the inositol 1,4,5-triphosphate receptor type 1 gene causing severe pontine and cerebellar hypoplasia: Expanding the phenotype of ITPR1-related spinocerebellar ataxia's.
Am J Med Genet A
; 173(1): 207-212, 2017 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-27862915
6.
Pontocerebellar hypoplasia with spinal muscular atrophy (PCH1): identification of SLC25A46 mutations in the original Dutch PCH1 family.
Brain
; 140(8): e46, 2017 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28637197
7.
A qualitative study on the perspectives of mothers who had been diagnosed with primary carnitine deficiency through newborn screening of their child.
Orphanet J Rare Dis
; 18(1): 134, 2023 06 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37268964
8.
Parents' views on accepting, declining, and expanding newborn bloodspot screening.
PLoS One
; 17(8): e0272585, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35980961
9.
Informing Parents about Newborn Screening: A European Comparison Study.
Int J Neonatal Screen
; 7(1)2021 Feb 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-33652810
10.
Expanding Neonatal Bloodspot Screening: A Multi-Stakeholder Perspective.
Front Pediatr
; 9: 706394, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34692604
11.
Primary Ovarian Failure in Addition to Classical Clinical Features of Coats Plus Syndrome in a Female Carrying 2 Truncating Variants of CTC1.
Horm Res Paediatr
; 94(11-12): 448-455, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34706368
12.
What's new in pontocerebellar hypoplasia? An update on genes and subtypes.
Orphanet J Rare Dis
; 13(1): 92, 2018 06 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29903031
13.
New Genetic Variant in the MYH7 Gene Associated With Hypoplastic Right Heart Syndrome and Hypertrophic Cardiomyopathy in the Same Family.
Circ Genom Precis Med
; 16(6): e004184, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37818629
14.
Biallelic loss of function variants in COASY cause prenatal onset pontocerebellar hypoplasia, microcephaly, and arthrogryposis.
Eur J Hum Genet
; 26(12): 1752-1758, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30089828
15.
Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations.
Neuron
; 100(6): 1354-1368.e5, 2018 12 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-30449657
16.
RARS2 Mutations: Is Pontocerebellar Hypoplasia Type 6 a Mitochondrial Encephalopathy?
JIMD Rep
; 33: 87-92, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-27683254
17.
Whole Exome Sequencing Reveals Compound Heterozygosity for Ethnically Distinct PEX7 Mutations Responsible for Rhizomelic Chondrodysplasia Punctata, Type 1.
Case Rep Genet
; 2015: 454526, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26587300
18.
Macro-invertebrate decline in surface water polluted with imidacloprid.
PLoS One
; 8(5): e62374, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23650513