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Jair Huber
Jair Huber
Médico Geneticista do Setor de Genética Médica do HC-FMRP-USP
Verified email at rge.fmrp.usp.br
Title
Cited by
Cited by
Year
Abnormal methylation at the KvDMR1 imprinting control region in clinically normal children conceived by assisted reproductive technologies
MV Gomes, J Huber, RA Ferriani, AM Amaral Neto, ES Ramos
Molecular human reproduction 15 (8), 471-477, 2009
1382009
The P48T germline mutation and polymorphism in the CDKN2A gene of patients with melanoma
J Huber, ES Ramos
Brazilian journal of medical and biological research 39, 237-241, 2006
262006
Fuhrmann syndrome: two Brazilian cases
J Huber, JB Volpon, ES Ramos
Clinical Dysmorphology 12 (2), 85-88, 2003
242003
The epidemiology of sepsis in paediatric intensive care units in Brazil (the Sepsis PREvalence Assessment Database in Pediatric population, SPREAD PED): an observational study
DC de Souza, JG Martin, VS Lanziotti, CF de Oliveira, C Tonial, ...
The Lancet Child & Adolescent Health 5 (12), 873-881, 2021
212021
Karyotype/phenotype correlation in partial trisomies of the long arm of chromosome 16: case report and review of literature
AC Laus, WAR Baratela, LAF Laureano, SA Santos, J Huber, ES Ramos, ...
American Journal of Medical Genetics Part A 158 (4), 821-827, 2012
152012
Investigation of IGF2/ApaI and H19/RsaI polymorphisms in patients with cutaneous melanoma
MR Soares, J Huber, AFL Rios, ES Ramos
Growth Hormone & IGF Research 20 (4), 295-297, 2010
152010
Ambulatório de genética médica na Apae: experiência no ensino médico de graduação
DG Melo, MMP Demarzo, J Huber
Revista Brasileira de Educação Médica 32, 396-402, 2008
102008
Oral rehabilitation of a child with hypohidrotic ectodermal dysplasia
CP Torres, AC Dos Reis, AM Queiroz, MB Stuani, P Mira, PS Ferreira, ...
Journal of Dentistry for Children 86 (3), 158-163, 2019
82019
Anomalias congênitas: validade das informações das declarações de nascido vivo em uma maternidade de Ribeirão Preto, São Paulo
CUB de Mauá
Pediatria (São Paulo) 30 (3), 159-164, 2008
82008
Molecular basis of familial adenomatous polyposis in the southeast of Brazil: identification of six novel mutations
LF Araujo, GA Molfetta, OC Vincenzi, J Huber, LA Teixeira, VE Ferraz, ...
The International Journal of Biological Markers 34 (1), 80-89, 2019
72019
Development and freezability of bovine embryos cultured in bovine oviducts for seven days
V Havlicek, S Cseh, A Kuzmany, J Huber, H Pothmann-Reichl, ...
REPRODUCTION IN DOMESTIC ANIMALS 42, 101-102, 2007
22007
Velocardiofacial syndrome with a rare t (2; 22)
J Huber, CA Rainho, MV Gomes, SA Santos, ES Ramos
Clinical Dysmorphology 16 (3), 181-183, 2007
12007
Effect of culture conditions on the cryo-tolerance of bovine embryos
V Havlicek, S Cseh, M Dobretsberger, J Huber, U Besenfelder
REPRODUCTION IN DOMESTIC ANIMALS 41 (4), 305-305, 2006
12006
DE NO/O) COMPLEX (CHROMOSOME REARRANGEMENT: A STUDY OF TWO PATIENTS
DG MEL, J Huber, LR Giuliani, LE MAZZUCATTO, M Riegel
Genetic counseling 15 (3), 303-310, 2004
12004
Increased insulin-like growth factor 1 and interferon tau signaling in pregnant cows with an extended voluntary waiting period of 120 days
C Gabler, S Widera, J Huber, C Holder, L Jessen, K Mense, M Jung, ...
REPRODUCTION IN DOMESTIC ANIMALS 57, 9-9, 2022
2022
Higher mRNA expression of selected pro-inflammatory factors on day 1 after artificial insemination in cows which conceived
S Widera, J Huber, C Holder, L Jessen, K Mense, M Jung, C Gabler
REPRODUCTION IN DOMESTIC ANIMALS 55, 34-34, 2020
2020
Genitopatellar syndrome: case report
CGP Albuquerque, RE Maia, TTSL Cavalcanti, J Huber, ES Ramos
Resumos, 2017
2017
Familial non-disjunction and segregation variation of a supernumerary marker chromosome 15 in members of a large family
TM Joaquim, DC de Souza, CHP Grangeiro, J Huber, AC Laus, ...
Abstracts, 2017
2017
High resolution array-CGH analysis apparently balanced translocations reveals complex chromosomal rearrangement and cryptic deletions associated with the phenotypes
TM Joaquim, CHP Grangeiro, FG de Oliveira Gennaro, ...
Semina: Ciências Biológicas e da Saúde 38 (1supl), 183-183, 2017
2017
Caracterização molecular da polipose adenomatosa familial na região sudeste do Brasil: descrição de nove mutações novas
GA Molfetta, OC Vincenzi, J Huber, VEF Ferraz, WA Silva Júnior
Trabalhos apresentados, 2015
2015
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