Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
---|---|---|---|
1 |
Material Type: Artigo
|
![]() |
Lipoid proteinosis Rare case confirmed by ECM1 mutation detectionTatiana F. Almeida Diogo C Soares; Caio R Quaio; Rachel S Honjo; Debora R Bertola; John A McGrath; Chong A KimInternational Journal of Pediatric Otorhinolaryngology Amsterdan v. 78, p. 2314-2315, 2014Amsterdan 2014Acesso online. A biblioteca também possui exemplares impressos. |
2 |
Material Type: Artigo
|
![]() |
Santos syndrome is caused by mutation in the WNT7A geneLeandro U. Alves Silvana Santos; Camila M Musso; Suzana A. M Ezquina; John M Opitz; Fernando Kok; Paulo A Otto; Regina Celia Mingroni NettoJournal of human genetics v. 62, n. 12, p. 1073-1078, 2017New York 2017Acesso online. A biblioteca também possui exemplares impressos. |
3 |
Material Type: Artigo
|
![]() |
Mutations in trpγ, the homologue of TRPC6 autism candidate gene, causes autism-like behavioral deficits in DrosophilaAngelina Palacios-Muñoz Danielle de Paula Moreira; Valeria Silva; Isaac E García; Francisco Aboitiz; Mehdi Zarrei; Gabriele Campos; Olivia Rennie; Jennifer L Howe; Evdokia Anagnostou; Patricia Ambrozewic; Stephen W Scherer; Maria Rita Passos-Bueno; John EwerMolecular Psychiatry London on-line, 2022London 2022Item não circula. Consulte sua biblioteca.(Acessar) |
4 |
Material Type: Artigo
|
![]() |
Novel MKRN3 missense mutations associated with central precocious puberty reveal distinct effects on ubiquitinationJohn C Magnotto Alessandra Mancini; Keisha Bird; Luciana Montenegro; Filiz Tutunculer; Sidney A Pereira; Vitoria Simas; Leonardo Garcia; Stephanie A Roberts; Ana Claudia Latronico XavierJournal of clinical endocrinology & metabolism v. 108, n. 7, p. 1646-1656, 2023Washington 2023Acesso online. A biblioteca também possui exemplares impressos. |
5 |
Material Type: Artigo
|
![]() |
Abnormal myosin post-translational modifications and ATP turnover time associated with human congenital myopathy-related RYR1 mutationsAlexander Sonne Anna Katarina Antonovic; Elise Melhedegaard; Fariha Akter; Jesper L Andersen; Heinz Jungbluth; Nanna Witting; John Vissing; Edmar Zanoteli; Arianna Fornili; Julien OchalaActa physiologica v. 239, n. 2, 2023Hoboken 2023Acesso online. A biblioteca também possui exemplares impressos. |
6 |
Material Type: Artigo
|
![]() |
Incidence of cystic fibrosis in five different states of Brazil as determined by screening of p.F508del, mutation at the CFTR gene in newborns and patientsSalmo Raskin Lilian Pereira Ferrari; Francisco Caldeira Reis; Fernando Abreu; Paulo Marostica; Tatiana Rozov; Joselina Cardieri; Norberto Ludwing; Lairton Valentin; Nelson Augusto Rosario Filho; Eurico Camargo Neto; Eduardo Lewis; Roberto Giugliani; Edna Maria Albuquerque Diniz; Lodercio Culpi; John Atlas Phillip III; Ranajit ChakrabortyJournal of cystic fibrosis Amsterdam v. 7, n. 1, p. 15-22, 2008Amsterdam 2008Localização: FM - Fac. Medicina (BCSEP 251 2008 )(Acessar) |
7 |
Material Type: Artigo
|
![]() |
Incidence of cystic fibrosis in five different states of Brazil as determined by screening of p.F508del, mutation at the CFTR gene in newborns and patientsSalmo Raskin Lilian Pereira Ferrari; Francisco Caldeira Reis; Fernando Abreu; Paulo Marostica; Tatiana Rozov; Joselina Cardieri; Norberto Ludwing; Lairton Valentin; Nelson Augusto Rosario Filho; Eurico Camargo Neto; Eduardo Lewis; Roberto Giugliani; Edna Maria Albuquerque Diniz; Lodercio Culpi; John Atlas Phillip III; Ranajit ChakrabortyJournal of cystic fibrosis Amsterdam v. 7, n. 1, p. 15-22, 2008Amsterdam 2008Localização: FM - Fac. Medicina (BCSEP 251 2008 )(Acessar) |
8 |
Material Type: Artigo de Congresso
|
![]() |
Seven novel mutations in steroidogenic factor-1 (SF1/NR5A1) in 46,XY DSD patientsAline Z. Machado Mariza G Santos; Sorahia Domenice; Valeria S Lando; Maria P Brandao; Miriam N Nishi; Elaine E. M. F Costa; Bruno Ferraz-de-Souza; John C Achermann; Lin Lin; Berenice B Mendonça; Annual meeting of the European Society for Pediatric Endocrinology (ESPE) 2010 Prague) (49.Hormone Research in Paediatrics Basel v. 74, n. suppl. 3, p. 113, res. P1-d3.369, 2010Basel 2010Localização: FM - Fac. Medicina (BCSEP 311 2010 )(Acessar) |
9 |
Material Type: Artigo
|
![]() |
TAC3/TACR3 Mutations Reveal Preferential Activation of Gonadotropin-Releasing Hormone Release by Neurokinin B in Neonatal Life Followed by Reversal in AdulthoodElena Gianetti Cintia Tusset; Sekoni D Noel; Margaret G Au; Andrew A Dwyer; Virginia A Hughes; Ana Paula Abreu; Jessica Carroll; Ericka Trarbach; Leticia F. G Silveira; Elaine M. F Costa; Berenice Bilharinho de Mendonça; Margaret de Castro; Adriana Lofrano; Janet E Hall; Erol Bolu; Metin Ozata; Richard Quinton; John K Amory; Susan E Stewart; Wiebke Arlt; Trevor R Cole; William F Crowley; Ursula B Kaiser; Ana Claudia Latronico; Stephanie B SeminaraJournal of Clinical Endocrinology and Metabolism Philadelphia v. 95, n. 5, p. 2857-2867, 2010Philadelphia 2010Acesso online. A biblioteca também possui exemplares impressos. |
10 |
Material Type: Artigo
|
![]() |
Familial hypercholesterolaemia in children and adolescents gaining decades of life by optimizing detection and treatmentAlbert Wiegman Samuel S Gidding; Gerald F Watts; M. John Chapman; Henry N Ginsberg; Marina Cuchel; Leiv Ose; Maurizio Averna; Catherine Boileau; Jan Borén; Eric Bruckert; Alberico L Catapano; Joep C Defesche; Olivier S Descamps; Robert A Hegele; G. Kees Hovingh; Steve E Humphries; Petri T Kovanen; Jan Albert Kuivenhoven; Luis Masana; Børge G Nordestgaard; Päivi Pajukanta; Klaus G Parhofer; Frederick J Raal; Kausik K Ray; Raul D Santos; Anton F. H Stalenhoef; Elisabeth Steinhagen-Thiessen; Erik S Stroes; Marja-Riitta Taskinen; Anne Tybjærg-Hansen; Olov WiklundEuropean heart journal London v. 36, p. 2425-2437, 2015London 2015Localização: FM - Fac. Medicina (BCSEP 096 2015 )(Acessar) |