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1 . Academic Journal
Biochemical profile in an infant with neonatal hemochromatosis shows evidence of impairment of mitochondrial long-chain fatty acid oxidation
저자
by
Karina Lucio De Medeiros Bastos
;
Caio Robledo Quaio
;
Fabiana Roberto Lima
;
Iana Manuelle Arajo
;
Candice Alves Tavares Arajo
, et al.
소스
Clinical and Molecular Hepatology(대한간학회지) / Clinical and Molecular Hepatology (CMH)
. Mar 31, 2019 25(1):86
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Scopus
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7 . Academic Journal
Advantages of whole-exome sequencing over immunomapping in 67 Brazilian patients with epidermolysis bullosa
저자
by
Samantha Vernaschi Kelmann
;
Bruno de Oliveira Stephan
;
Silvia Maria de Macedo Barbosa
;
Rita Tiziana Verardo Polastrini
;
Zilda Najjar Prado de Oliveira
, et al.
소스
Anais Brasileiros de Dermatologia, Vol 99, Iss 3, Pp 350-356 (2024)
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7 . Academic Journal
Brazilian growth charts for Williams–Beuren Syndrome at ages 2 to 18 years
저자
by
Amanda de Sousa Lima Strafacci
;
Fabio Bertapelli
;
Chong Ae Kim
;
Maria José Rivadeneira
;
Rachel Sayuri Honjo
, et al.
소스
Jornal de Pediatria, Vol 100, Iss 3, Pp 277-282 (2024)
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7 . Academic Journal
Trisomy 13 with unusual histological features typically described in Beckwith-Wiedemann Spectrum
저자
by
Wilker Dias Martins
;
Elisa França Chaves
;
Flavia Cristina Gonçalves de Aquino
;
Sean Brasil de Oliveira
;
Isabela Dorneles Pasa
, et al.
소스
Autopsy and Case Reports, Vol 14 (2024)
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7 . Academic Journal
Evaluation of 73 Enlisted Patients for Liver Transplant with Unknown Etiology Reveals a Late-Diagnosed Case of Lysosomal Acid Lipase Deficiency
저자
by
Karina Lucio de Medeiros Bastos
;
Bruno de Oliveira Stephan
;
Bianca Domit Werner Linnenkamp
;
Larissa Athayde Costa
;
Fabiana Roberto Lima
, et al.
소스
International Journal of Molecular Sciences, Vol 25, Iss 16, p 8648 (2024)
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7 . Academic Journal
Disease progression in Sanfilippo type B: Case series of Brazilian patients
저자
by
Yorran Hardman Araújo Montenegro
;
Francyne Kubaski
;
Franciele Barbosa Trapp
;
Mariluce Riegel-Giugliani
;
Carolina Fischinger Moura de Souza
, et al.
소스
Genetics and Molecular Biology, Vol 47, Iss 1 (2024)
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7 . Academic Journal
Variants in Candidate Genes for Phenotype Heterogeneity in Patients with the 22q11.2 Deletion Syndrome
저자
by
Natalia Nunes
;
Beatriz Carvalho Nunes
;
Malú Zamariolli
;
Diogo Cordeiro de Queiroz Soares
;
Leonardo Caires dos Santos
, et al.
소스
Genetics Research, Vol 2024 (2024)
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7 . Academic Journal
Neuropsychological Profile of 25 Brazilian Patients with 22q11.2 Deletion Syndrome: Effects of Clinical and Socioeconomic Variables
저자
by
Larissa Salustiano Evangelista Pimenta
;
Claudia Berlim de Mello
;
Luciana Mello Di Benedetto
;
Diogo Cordeiro de Queiroz Soares
;
Leslie Domenici Kulikowski
, et al.
소스
Genes, Vol 15, Iss 5, p 595 (2024)
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7 . Academic Journal
22q11.2 Deletion Syndrome: Influence of Parental Origin on Clinical Heterogeneity
저자
by
Melissa Bittencourt de Wallau
;
Ana Carolina Xavier
;
Carolina Araújo Moreno
;
Chong Ae Kim
;
Elaine Lustosa Mendes
, et al.
소스
Genes, Vol 15, Iss 4, p 518 (2024)
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7 . Academic Journal
Achondroplasia in Latin America: practical recommendations for the multidisciplinary care of pediatric patients
저자
by
Juan Llerena
;
Chong Ae Kim
;
Virginia Fano
;
Pablo Rosselli
;
Paulo Ferrez Collett-Solberg
, et al.
소스
BMC Pediatrics, Vol 22, Iss 1, Pp 1-13 (2022)
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