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1 . Academic Journal
Exome Sequencing Identifies Multiple Genetic Diagnoses in Children with Syndromic Growth Disorders
저자
by
Rezende, Raissa Carneiro
;
Menezes de Andrade, Nathalia Liberatoscioli
;
Branco Dantas, Naiara Castelo
;
de Polli Cellin, Laurana
;
Victorino Krepischi, Ana Cristina
, et al.
소스
In
The Journal of Pediatrics
February 2024 265
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7 . Academic Journal
Burden of Rare Copy Number Variants in Microcephaly: A Brazilian Cohort of 185 Microcephalic Patients and Review of the Literature.
저자
by
Tolezano, Giovanna Cantini
;
Bastos, Giovanna Civitate
;
da Costa, Silvia Souza
;
Freire, Bruna Lucheze
;
Homma, Thais Kataoka
, et al.
소스
Journal of Autism & Developmental Disorders
; Mar2024, Vol. 54 Issue 3, p1181-1212, 32p
EBSCOHost PDF
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7 . Periodical
Two new patients with acromesomelic dysplasia, PRKG2 type—identification and characterization of the first missense variant
저자
by
Akgun-Dogan, Ozlem
;
Díaz-González, Francisca
;
de Lima Jorge, Alexander Augusto
;
Onenli-Mungan, Neslihan
;
Menezes Andrade, Nathalia Liberatoscioli
, et al.
소스
European Journal of Human Genetics: EJHG; 20240101, Issue: Preprints p1-7, 7p
Scopus
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7 . Academic Journal
High frequency of genetic/epigenetic disorders in short stature children born with very low birth weight.
저자
by
Freire, Bruna Lucheze
;
Homma, Thais Kataoka
;
Lerario, Antônio Marcondes
;
Seo, Go Hun
;
Han, Heonjong
, et al.
소스
American Journal of Medical Genetics. Part A; Sep2022, Vol. 188 Issue 9, p2599-2604, 6p
Scopus
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7 . Academic Journal
Genetic investigation of syndromic forms of obesity
저자
by
Carvalho, Laura Machado Lara
;
D’Angelo, Carla Sustek
;
Villela, Darine
;
da Costa, Silvia Souza
;
de Lima Jorge, Alexander Augusto
, et al.
소스
International Journal of Obesity
. 46(9):1582-1586
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7 . Academic Journal
Genetic investigation of patients with tall stature.
저자
by
de Albuquerque Albuquerque, Edoarda Vasco
;
de Assis Funari, Mariana Ferreira
;
de Souza Quedas, Elisângela Pereira
;
Kawahira, Rachel Sayuri Honjo
;
Jallad, Raquel Soares
, et al.
소스
European Journal of Endocrinology
. Feb2020, Vol. 182 Issue 2, p139-147. 9p.
Full Text (OUP)
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7 . Academic Journal
Oncogenic mutations in KEAP1 disturbing inhibitory Nrf2‐Keap1 interaction: Activation of antioxidative pathway in papillary thyroid carcinoma.
저자
by
Danilovic, Debora Lucia Seguro
;
de Mello, Evandro Sobroza
;
Frazzato, Eliana Salgado Turri
;
Wakamatsu, Alda
;
de Lima Jorge, Alexander Augusto
, et al.
소스
Head & Neck; Jun2018, Vol. 40 Issue 6, p1271-1278, 8p
Scopus
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7 . Academic Journal
SELAdb: A database of exonic variants in a Brazilian population referred to a quaternary medical center in Sao Paulo
저자
by
Lerario, Antonio Marcondes
;
Mohan, Dipika R.
;
Montenegro, Luciana Ribeiro
;
de Assis Funari, Mariana Ferreira
;
Nishi, Mirian Yumie
, et al.
소스
CLINICS
; 2020, 75 pe1913 9p.
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7 . Academic Journal
Comparison of Ga-68 PET/CT to Other Imaging Studies in Medullary Thyroid Cancer: Superiority in Detecting Bone Metastases
저자
by
Castroneves, Luciana Audi
;
Coura Filho, George
;
Costa de Freitas, Ricardo Miguel
;
Salles, Raphael
;
Moyses, Raquel Ajub
, et al.
소스
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
; SEP 2018, 103 9, p3250-p3259, 10p.
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7 . Academic Journal
Homozygous and Heterozygous Nuclear Lamin A p.R582C Mutation: Different Lipodystrophic Phenotypes in the Same Kindred
저자
by
Montenegro, Renan Magalhaes, Jr.
;
Costa-Riquetto, Aline Dantas
;
Fernandes, Virginia Oliveira
;
Dias Rangel Montenegro, Ana Paula
;
de Santana, Lucas Santos
, et al.
소스
FRONTIERS IN ENDOCRINOLOGY
; AUG 20 2018, 9 p458 9p.
Scopus
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