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Two Patients with Severe Short Stature due to a FBN1 Mutation (p.Ala1728Val) with a Mild Form of Acromicric Dysplasia. [electronic resource] by
- de Bruin, Christiaan
- Finlayson, Courtney
- Funari, Mariana F A
- Vasques, Gabriela A
- Lucheze Freire, Bruna
- Lerario, Antonio M
- Andrew, Melissa
- Hwa, Vivian
- Dauber, Andrew
- Jorge, Alexander A L
Producer: 20170417
In:
Hormone research in paediatrics vol. 86
Availability: No items available.
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Growth hormone insensitivity with immune dysfunction caused by a STAT5B mutation in the south of Brazil: evidence for a founder effect. [electronic resource] by
- Scalco, Renata C
- Gonçalves, Fernanda T
- Santos, Hadassa C
- Cardena, Mari M S G
- Tonelli, Carlos A
- Funari, Mariana F A
- Aracava, Rosana M
- Pereira, Alexandre C
- Fridman, Cintia
- Jorge, Alexander A L
Publication details: Genetics and molecular biology
In:
Genetics and molecular biology vol. 40
Availability: No items available.
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Evaluation of SHOX defects in the era of next-generation sequencing. [electronic resource] by
- Funari, Mariana F A
- de 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
Producer: 20200817
In:
Clinical genetics vol. 96
Availability: No items available.
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Exome Sequencing Reveals the POLR3H Gene as a Novel Cause of Primary Ovarian Insufficiency. [electronic resource] by
- 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
Producer: 20200601
In:
The Journal of clinical endocrinology and metabolism vol. 104
Availability: No items available.
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Pathogenic copy number variants in patients with congenital hypopituitarism associated with complex phenotypes. [electronic resource] by
- Correa, Fernanda A
- Jorge, Alexander Al
- Nakaguma, Marilena
- Canton, Ana Pm
- Costa, Silvia S
- Funari, Mariana F
- Lerario, Antonio M
- Franca, Marcela M
- Carvalho, Luciani R
- Krepischi, Ana Cv
- Arnhold, Ivo Jp
- Rosenberg, Carla
- Mendonca, Berenice B
Producer: 20190913
In:
Clinical endocrinology vol. 88
Availability: No items available.
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Growth and Clinical Characteristics of Children with Floating-Harbor Syndrome: Analysis of Current Original Data and a Review of the Literature. [electronic resource] 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
Producer: 20200521
In:
Hormone research in paediatrics vol. 92
Availability: No items available.
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The sitting height/height ratio for age in healthy and short individuals and its potential role in selecting short children for SHOX analysis. [electronic resource] by
- Malaquias, Alexsandra C
- Scalco, Renata C
- Fontenele, Eveline G P
- Costalonga, Everlayny F
- Baldin, Alexandre D
- Braz, Adriana F
- Funari, Mariana F A
- Nishi, Mirian Y
- Guerra-Junior, Gil
- Mendonca, Berenice B
- Arnhold, Ivo J P
- Jorge, Alexander A L
Producer: 20141009
In:
Hormone research in paediatrics vol. 80
Availability: No items available.
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IHH Gene Mutations Causing Short Stature With Nonspecific Skeletal Abnormalities and Response to Growth Hormone Therapy. [electronic resource] by
- Vasques, Gabriela A
- Funari, Mariana F A
- Ferreira, Frederico M
- Aza-Carmona, Miriam
- Sentchordi-Montané, Lucia
- Barraza-García, Jimena
- Lerario, Antonio M
- Yamamoto, Guilherme L
- Naslavsky, Michel S
- Duarte, Yeda A O
- Bertola, Debora R
- Heath, Karen E
- Jorge, Alexander A L
Producer: 20180525
In:
The Journal of clinical endocrinology and metabolism vol. 103
Availability: No items available.
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