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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
Impact of Growth Hormone Therapy on Adult Height in Patients with PTPN11 Mutations Related to Noonan Syndrome.
Published in:
Hormone Research in Paediatrics, 2019, v. 91, n. 4, p. 252, doi. 10.1159/000500264
By:
- Malaquias, Alexsandra C.;
- Noronha, Renata M.;
- Souza, Thaiana T.O.;
- Homma, Thais K.;
- Funari, Mariana F.A.;
- Yamamoto, Guilherme L.;
- Silva, Fernanda Viana;
- Moraes, Michelle B.;
- Honjo, Rachel S.;
- Kim, Chong A.;
- Nesi-França, Suzana;
- Carvalho, Julienne A.R.;
- Quedas, Elisangela P.S.;
- Bertola, Debora R.;
- 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: 5

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.

Impact of Growth Hormone Therapy on Adult Height in Patients with PTPN11 Mutations Related to Noonan Syndrome.

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.