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Diagnosis of TBC1D32‐associated conditions: Expanding the phenotypic spectrum of a complex ciliopathy.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 5, p. 1282, doi. 10.1002/ajmg.a.63150
By:
- Harris, Sarah C.;
- Chong, Karen;
- Chitayat, David;
- Gilmore, Kelly L.;
- Jorge, Alexander A. L.;
- Freire, Bruna L.;
- Lerario, Antonio;
- Shannon, Patrick;
- Cope, Heidi;
- Gallentine, William B.;
- Le Guyader, Gwenal;
- Bilan, Frederic;
- Létard, Pascaline;
- Davis, Erica E.;
- Vora, Neeta L.
Publication type:
Article
Variants in 46,XY DSD-Related Genes in Syndromic and Non-Syndromic Small for Gestational Age Children with Hypospadias.
Published in:
Sexual Development, 2022, v. 16, n. 1, p. 27, doi. 10.1159/000518091
By:
- Leitao Braga, Barbara;
- Lisboa Gomes, Nathalia;
- Nishi, Mirian Y.;
- Freire, Bruna L.;
- Batista, Rafael L.;
- D. Faria Junior, Jose A.;
- Funari, Mariana F.A.;
- Figueredo Benedetti, Anna F.;
- de Moraes Narcizo, Amanda;
- Cavalca Cardoso, Lais;
- Lerario, Antonio M.;
- Guerra-Junior, Gil;
- Frade Costa, Elaine M.;
- Domenice, Sorahia;
- Jorge, Alexander A.L.;
- Mendonca, Berenice B.
Publication type:
Article
Evaluation of SHOX defects in the era of next‐generation sequencing.
Published in:
Clinical Genetics, 2019, v. 96, n. 3, p. 261, doi. 10.1111/cge.13587
By:
- Funari, Mariana F.A.;
- Barros, Juliana S.;
- Santana, Lucas S.;
- Lerario, Antonio M.;
- Freire, Bruna L.;
- Homma, Thais K.;
- Vasques, Gabriela A.;
- Mendonca, Berenice B.;
- Nishi, Mirian Y.;
- Jorge, Alexander A.L.
Publication type:
Article
Growth and Clinical Characteristics of Children with Floating-Harbor Syndrome: Analysis of Current Original Data and a Review of the Literature.
Published in:
Hormone Research in Paediatrics, 2019, v. 92, n. 2, p. 115, doi. 10.1159/000503782
By:
- Homma, Thais K.;
- Freire, Bruna L.;
- Honjo, Rachel;
- Dauber, Andrew;
- Funari, Mariana F.A.;
- Lerario, Antonio M.;
- Albuquerque, Edoarda V.A.;
- Vasques, Gabriela A.;
- Bertola, Debora R.;
- Kim, Chong A.;
- Malaquias, Alexsandra C.;
- Jorge, Alexander A.L.
Publication type:
Article
Recurrent Copy Number Variants Associated with Syndromic Short Stature of Unknown Cause.
Published in:
Hormone Research in Paediatrics, 2018, v. 89, n. 1, p. 13, doi. 10.1159/000481777
By:
- Homma, Thais K.;
- Krepischi, Ana C.V.;
- Furuya, Tatiane K.;
- Honjo, Rachel S.;
- Malaquias, Alexsandra C.;
- Bertola, Debora R.;
- Costa, Silvia S.;
- Canton, Ana P.;
- Roela, Rosimeire A.;
- Freire, Bruna L.;
- Kim, Chong A.;
- Rosenberg, Carla;
- Jorge, Alexander A.L.
Publication type:
Article
Multigene Sequencing Analysis of Children Born Small for Gestational Age With Isolated Short Stature.
Published in:
2019
By:
- Freire, Bruna L;
- Homma, Thais K;
- Funari, Mariana F A;
- Lerario, Antônio M;
- Vasques, Gabriela A;
- Malaquias, Alexsandra C;
- Arnhold, Ivo J P;
- Jorge, Alexander A L
Publication type:
journal article

Found: 6

Diagnosis of TBC1D32‐associated conditions: Expanding the phenotypic spectrum of a complex ciliopathy.

Variants in 46,XY DSD-Related Genes in Syndromic and Non-Syndromic Small for Gestational Age Children with Hypospadias.

Evaluation of SHOX defects in the era of next‐generation sequencing.

Growth and Clinical Characteristics of Children with Floating-Harbor Syndrome: Analysis of Current Original Data and a Review of the Literature.

Recurrent Copy Number Variants Associated with Syndromic Short Stature of Unknown Cause.

Multigene Sequencing Analysis of Children Born Small for Gestational Age With Isolated Short Stature.