Santos H - Search Results

1

Molybdenum Cofactor Deficiency in the Neonate: Expanding the Phenotype.

Hierro F, Tomé ML, Grenha J, Santos H, Santos F, Nunes J. Hierro F, et al. Among authors: santos f, santos h. Pediatr Neurol. 2024 Apr;153:113-115. doi: 10.1016/j.pediatrneurol.2024.01.020. Epub 2024 Feb 1. Pediatr Neurol. 2024. PMID: 38367485 No abstract available.

2

Expanding the Phenotypic Spectrum of HIVEP2-Related Intellectual Disability: Description of Two Portuguese Patients and Review of the Literature.

Quental R, Borges JP, Santos H, Leão M. Quental R, et al. Among authors: santos h. Mol Syndromol. 2022 Dec;13(5):397-401. doi: 10.1159/000521692. Epub 2022 Mar 14. Mol Syndromol. 2022. PMID: 36588750 Free PMC article.

3

Copy number variations on chromosome 2: impact on human phenotype, a cross-sectional study.

Sousa B, Grangeia A, Pinto J, Santos H, Dória S. Sousa B, et al. Among authors: santos h. Porto Biomed J. 2023 Feb 7;8(1):e198. doi: 10.1097/j.pbj.0000000000000198. eCollection 2023 Jan-Feb. Porto Biomed J. 2023. PMID: 37213247 Free PMC article.

4

Classical fragile-X phenotype in a female infant disclosed by comprehensive genomic studies.

Jorge P, Garcia E, Gonçalves A, Marques I, Maia N, Rodrigues B, Santos H, Fonseca J, Soares G, Correia C, Reis-Lima M, Cirigliano V, Santos R. Jorge P, et al. Among authors: santos r, santos h. BMC Med Genet. 2018 May 10;19(1):74. doi: 10.1186/s12881-018-0589-6. BMC Med Genet. 2018. PMID: 29747568 Free PMC article.

5

Impact of copy number variants in epilepsy plus neurodevelopment disorders.

João S, Quental R, Pinto J, Almeida C, Santos H, Dória S. João S, et al. Among authors: santos h. Seizure. 2024 Apr;117:6-12. doi: 10.1016/j.seizure.2024.01.009. Epub 2024 Jan 19. Seizure. 2024. PMID: 38277927 Free article.

6

18 Months of Treatment with Triheptanoin in 2 Patients with Long Chain Fatty Acid Oxidation Disorders.

Santos H, Vieira A, Tenente J, Carriço A, Rodrigues E. Santos H, et al. Endocr Metab Immune Disord Drug Targets. 2023 Dec 13. doi: 10.2174/0118715303279681231122104925. Online ahead of print. Endocr Metab Immune Disord Drug Targets. 2023. PMID: 38093447

7

Mandibulofacial dysostosis with microcephaly: a syndrome to remember.

Silva JB, Soares D, Leão M, Santos H. Silva JB, et al. Among authors: santos h. BMJ Case Rep. 2019 Aug 13;12(8):e229831. doi: 10.1136/bcr-2019-229831. BMJ Case Rep. 2019. PMID: 31413053 Free PMC article.

8

[Clinical and Epidemiological Study of Complicated Infection by Varicella-Zoster Virus in the Pediatric Age].

Maia C, Fonseca J, Carvalho I, Santos H, Moreira D. Maia C, et al. Among authors: santos h. Acta Med Port. 2015 Nov-Dec;28(6):741-8. Epub 2015 Dec 31. Acta Med Port. 2015. PMID: 26849759 Free article. Portuguese.

9

The genetic landscape of mitochondrial diseases in the next-generation sequencing era: a Portuguese cohort study.

Nogueira C, Pereira C, Silva L, Laranjeira M, Lopes A, Neiva R, Rodrigues E, Campos T, Martins E, Bandeira A, Coelho M, Magalhães M, Damásio J, Gaspar A, Janeiro P, Gomes AL, Ferreira AC, Jacinto S, Vieira JP, Diogo L, Santos H, Mendonça C, Vilarinho L. Nogueira C, et al. Among authors: santos h. Front Cell Dev Biol. 2024 Feb 23;12:1331351. doi: 10.3389/fcell.2024.1331351. eCollection 2024. Front Cell Dev Biol. 2024. PMID: 38465286 Free PMC article.

10

[Pre-natal retroperitoneal mass: teratoma or fetus in fetu?].

Santos H, Furtado A, Tavares HB, João A, Ferraz L, Ferreira G, Nogueira R, Sousa P. Santos H, et al. Cir Pediatr. 2008 Jul;21(3):185-7. Cir Pediatr. 2008. PMID: 18756875 Spanish.

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