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Heterozygous Mutations in Natriuretic Peptide Receptor-B (NPR2) Gene as a Cause of Short Stature in Patients Initially Classified as Idiopathic Short Stature
Heterozygous Mutations in Natriuretic Peptide Receptor-B (NPR2) Gene as a Cause of Short Stature in Patients Initially Classified as Idiopathic Short Stature
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Heterozygous Mutations in Natriuretic Peptide Receptor-B (NPR2) Gene as a Cause of Short Stature in Patients Initially Classified as Idiopathic Short Stature

Vasques, Gabriela A ; Amano, Naoko ; Docko, Ana J ; Funari, Mariana F. A ; Quedas, Elisangela P. S ; Nishi, Mirian Y ; Arnhold, Ivo J. P ; Hasegawa, Tomonobu ; Jorge, Alexander A. L

The journal of clinical endocrinology and metabolism, 2013-10, Vol.98 (10), p.E1636-E1644 [Periódico revisado por pares]

United States: Endocrine Society

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2
Exome Sequencing Reveals the POLR3H Gene as a Novel Cause of Primary Ovarian Insufficiency
Exome Sequencing Reveals the POLR3H Gene as a Novel Cause of Primary Ovarian Insufficiency
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Exome Sequencing Reveals the POLR3H Gene as a Novel Cause of Primary Ovarian Insufficiency

Franca, Monica M ; Han, Xingfa ; Funari, Mariana F A ; Lerario, Antonio M ; Nishi, Mirian Y ; Fontenele, Eveline G P ; Domenice, Sorahia ; Jorge, Alexander A L ; Garcia-Galiano, David ; Elias, Carol F ; Mendonca, Berenice B

The journal of clinical endocrinology and metabolism, 2019-07, Vol.104 (7), p.2827-2841 [Periódico revisado por pares]

Washington, DC: Endocrine Society

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3
Multigene Sequencing Analysis of Children Born Small for Gestational Age With Isolated Short Stature
Multigene Sequencing Analysis of Children Born Small for Gestational Age With Isolated Short Stature
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Multigene Sequencing Analysis of Children Born Small for Gestational Age With Isolated Short Stature

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

The journal of clinical endocrinology and metabolism, 2019-06, Vol.104 (6), p.2023-2030 [Periódico revisado por pares]

Washington, DC: Endocrine Society

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4
Effectiveness of the Combined Recombinant Human Growth Hormone and Gonadotropin-Releasing Hormone Analog Therapy in Pubertal Patients with Short Stature due to SHOX Deficiency
Effectiveness of the Combined Recombinant Human Growth Hormone and Gonadotropin-Releasing Hormone Analog Therapy in Pubertal Patients with Short Stature due to SHOX Deficiency
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Effectiveness of the Combined Recombinant Human Growth Hormone and Gonadotropin-Releasing Hormone Analog Therapy in Pubertal Patients with Short Stature due to SHOX Deficiency

Scalco, Renata C ; Melo, Suzana S. J ; Pugliese-Pires, Patricia N ; Funari, Mariana F. A ; Nishi, Mirian Y ; Arnhold, Ivo J. P ; Mendonca, Berenice B ; Jorge, Alexander A. L

The journal of clinical endocrinology and metabolism, 2010-01, Vol.95 (1), p.328-332 [Periódico revisado por pares]

Bethesda, MD: Endocrine Society

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5
Contribution of Clinical and Genetic Approaches for Diagnosing 209 Index Cases With 46,XY Differences of Sex Development
Contribution of Clinical and Genetic Approaches for Diagnosing 209 Index Cases With 46,XY Differences of Sex Development
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Contribution of Clinical and Genetic Approaches for Diagnosing 209 Index Cases With 46,XY Differences of Sex Development

Gomes, Nathalia Lisboa ; Batista, Rafael Loch ; Nishi, Mirian Y ; Lerário, Antônio Marcondes ; Silva, Thatiana E ; de Moraes Narcizo, Amanda ; Benedetti, Anna Flávia Figueredo ; de Assis Funari, Mariana Ferreira ; Faria Junior, José Antônio ; Moraes, Daniela Rodrigues ; Quintão, Lia Mesquita Lousada ; Montenegro, Luciana Ribeiro ; Ferrari, Maria Teresa Martins ; Jorge, Alexander A ; Arnhold, Ivo J P ; Costa, Elaine Maria Frade ; Domenice, Sorahia ; Mendonca, Berenice Bilharinho

The journal of clinical endocrinology and metabolism, 2022-04, Vol.107 (5), p.e1797-e1806 [Periódico revisado por pares]

United States: Oxford University Press

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6
Multigene Sequencing AnalysisofChildrenBornSmall for Gestational Age With Isolated Short Stature
Multigene Sequencing AnalysisofChildrenBornSmall for Gestational Age With Isolated Short Stature
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Multigene Sequencing AnalysisofChildrenBornSmall for Gestational Age With Isolated Short Stature

Freire, Bruna L ; Homma, Thais K ; Funari, Mariana F. A ; Lerario, Antonio M ; Vasques, Gabriela A ; Malaquias, Alexsandra C ; Arnhold, Ivo J. P ; Jorge, Alexander A. L

The journal of clinical endocrinology and metabolism, 2019-06, Vol.104 (6), p.2023 [Periódico revisado por pares]

Oxford University Press

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