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Search Results - de Polli Cellin, Laurana
Search Results - de Polli Cellin, Laurana
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Exome Sequencing Identifies Multiple Genetic Diagnoses in Children with Syndromic Growth Disorders
by
Rezende, Raissa Carneiro
,
Menezes de Andrade, Nathalia Liberatoscioli
,
Branco Dantas, Naiara Castelo
,
de Polli Cellin, Laurana
,
Victorino Krepischi, Ana Cristina
,
Lerario, Antonio Marcondes
,
de Lima Jorge, Alexander Augusto
Published in
The Journal of pediatrics
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Two new patients with acromesomelic dysplasia, PRKG2 type—identification and characterization of the first missense variant
by
Akgun-Dogan, Ozlem
,
Díaz-González, Francisca
,
de Lima Jorge, Alexander Augusto
,
Onenli-Mungan, Neslihan
,
Menezes Andrade, Nathalia Liberatoscioli
,
de Polli Cellin, Laurana
,
Ceylaner, Serdar
,
Barcellos Rosa Modkovski, Maria
,
Alanay, Yasemin
,
Heath, Karen E.
Published in
European journal of human genetics : EJHG
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THU169 Role Of Growth Hormone (GH) Therapy In Short Children With Skeletal Dysplasias And Pathogenic Variants In The COL2A1 Gene
by
de Polli Cellin, Laurana
,
Guimaraes, Kayleigh Goncalves
,
De Andrade, Nathalia Liberatoscioli Menezes
,
Vasques, Gabriela Andrade
,
de Oliveira Goiano, Ellen
,
Akkari, Miguel
,
Santili, Claudio
,
Lima Jorge, Alexander Augusto
,
Malaquias, Alexsandra C
Published in
Journal of the Endocrine Society
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OR21-02 Diagnostic Yield Of A Multigene Approach In Children With Short Stature Of Unknown Cause
by
De Andrade, Nathalia Liberatoscioli Menezes
,
de Assis Funari, Mariana Ferreira
,
Malaquias, Alexsandra
,
Branco Dantas, Naiara Castelo
,
Rezende, Raissa
,
de Polli Cellin, Laurana
,
Homma, Thais Kataoka
,
Lerario, Antonio Marcondes
,
Arnhold, Ivo J
,
Vasques, Gabriela Andrade
,
Lima Jorge, Alexander Augusto
Published in
Journal of the Endocrine Society
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THU160 A Prospective Genetic Analysis Of Children With Idiopathic Short Stature (ISS) Using Whole-exome Sequencing (WES): First Results
by
de Polli Cellin, Laurana
,
Menezes De Andrade, Nathalia Liberatoscioli
,
Rezende, Raíssa Carneiro
,
Rezende, Raíssa
,
Souza, Vinicius
,
Branco Dantas, Naiara Castelo
,
Quedas, Elisangela
,
de Assis Funari, Mariana Ferreira
,
Vasques, Gabriela
,
Da Cunha Scalco, Renata
,
Malaquias, Alexsandra C
,
Jorge, Alexander
Published in
Journal of the Endocrine Society
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European Journal Of Human Genetics : Ejhg
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