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Circadian rhythm and profile in patients with juvenile myoclonic epilepsy and temporal lobe epilepsy
Circadian rhythm and profile in patients with juvenile myoclonic epilepsy and temporal lobe epilepsy
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Circadian rhythm and profile in patients with juvenile myoclonic epilepsy and temporal lobe epilepsy

Fukuda, Aya ; Funari, Mateus P ; Fernandes, Paula T ; Guerreiro, Carlos Mantovani ; Li, Li Min

Arquivos de neuro-psiquiatria, 2015-01, Vol.73 (1), p.3-6 [Periódico revisado por pares]

Brazil: Academia Brasileira de Neurologia - ABNEURO

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2
Evaluation of bone mineral density and microarchitectural parameters by DXA and HR-pQCT in 37 children and adults with X-linked hypophosphatemic rickets
Evaluation of bone mineral density and microarchitectural parameters by DXA and HR-pQCT in 37 children and adults with X-linked hypophosphatemic rickets
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Evaluation of bone mineral density and microarchitectural parameters by DXA and HR-pQCT in 37 children and adults with X-linked hypophosphatemic rickets

Colares Neto, G. P. ; Pereira, R. M. R. ; Alvarenga, J. C. ; Takayama, L. ; Funari, M. F. A. ; Martin, R. M.

Osteoporosis international, 2017-05, Vol.28 (5), p.1685-1692 [Periódico revisado por pares]

London: Springer London

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3
Impact of Growth Hormone Therapy on Adult Height in Patients with PTPN11 Mutations Related to Noonan Syndrome
Impact of Growth Hormone Therapy on Adult Height in Patients with PTPN11 Mutations Related to Noonan Syndrome
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Impact of Growth Hormone Therapy on Adult Height in Patients with PTPN11 Mutations Related to Noonan Syndrome

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.

Hormone research in paediatrics, 2019-01, Vol.91 (4), p.252-261 [Periódico revisado por pares]

Basel, Switzerland

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4
The Sitting Height/Height Ratio for Age in Healthy and Short Individuals and Its Potential Role in Selecting Short Children for SHOX Analysis
The Sitting Height/Height Ratio for Age in Healthy and Short Individuals and Its Potential Role in Selecting Short Children for SHOX Analysis
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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

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.

Hormone research in paediatrics, 2013-01, Vol.80 (6), p.449-456 [Periódico revisado por pares]

Basel, Switzerland: S. Karger AG

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5
A Novel Homozygous Missense FSHR Variant Associated with Hypergonadotropic Hypogonadism in Two Siblings from a Brazilian Family
A Novel Homozygous Missense FSHR Variant Associated with Hypergonadotropic Hypogonadism in Two Siblings from a Brazilian Family
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A Novel Homozygous Missense FSHR Variant Associated with Hypergonadotropic Hypogonadism in Two Siblings from a Brazilian Family

França, Monica M ; Lerario, Antonio M ; Funari, Mariana F A ; Nishi, Mirian Y ; Narcizo, Amanda M ; de Mello, Maricilda P ; Guerra-Junior, Gil ; Maciel-Guerra, Andrea T ; Mendonça, Berenice B

Sexual development, 2017-01, Vol.11 (3), p.137-142 [Periódico revisado por pares]

Switzerland

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6
Whole-Exome Sequencing Identifies Rare and Low-Frequency Coding Variants Associated with LDL Cholesterol
Whole-Exome Sequencing Identifies Rare and Low-Frequency Coding Variants Associated with LDL Cholesterol
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Whole-Exome Sequencing Identifies Rare and Low-Frequency Coding Variants Associated with LDL Cholesterol

Lange, Leslie A. ; Schmidt, Ellen M. ; Bizon, Chris ; Jun, Goo ; Auer, Paul ; Li, Kuo-ping ; Locke, Adam ; Rivas, Manuel A. ; Feitosa, Mary F. ; Zhang, Qunyuan ; Huffman, Jennifer E. ; Crosby, Jacy ; Robinson, Jennifer G. ; Crosslin, David R. ; Rosenthal, Elisabeth A. ; Tsai, Michael ; Rieder, Mark J. ; Fox, Ervin R. ; van Duijn, Cornelia M. ; Taylor, Herman A. ; Loos, Ruth J.F. ; Ballantyne, Christie M. ; Reiner, Alexander P. ; Cupples, L. Adrienne ; Kang, Hyun Min ; Lettre, Guillaume ; Rader, Daniel J. ; Reilly, Muredach P. ; Stoletzki, Nina ; Barr, R. Graham ; Benjamin, Emelia J. ; Carr, Jeff ; Dupuis, Josée ; Ellis, Jaclyn ; Fornage, Myriam ; Goff, David ; Grody, Wayne ; Heard-Costa, Nancy L. ; Levy, Daniel ; Li, Dalin ; Loria, Cay ; Mackey, Rachel ; Quinlan, Aaron R. ; Rice, Kenneth ; Sanders, Jill P. ; Tracy, Russell P. ; Tsai, Michael Y. ; Wassel, Chrstina L. ; Watson, Karol ; Wilson, Gregory ; Wilson, James G. ; Zakai, Neil A. ; Nalls, Michael ; Bamshad, Michael J. ; Accurso, Frank ; Beaty, Terri ; Caplan, Daniel ; Chidekel, Aaron ; Christiani, David C. ; De Paula, Alicia ; Gutierrez, Hector ; Hassoun, Paul M. ; Hiatt, Peter ; Hummer, Laura K. ; Kim, Yoonhee ; Lin, Xihong ; Louie, Tin L. ; Mathias, Rasika A. ; McNamara, John ; McNamara, Sharon ; Nielson, Dennis ; Orenstein, David ; O’Sullivan, Brian ; Passero, Mary Ann ; Perkett, Elizabeth ; Spencer, Terry ; Tabor, Holly K. ; Weiss, Robert ; Wigley, Fred ; Wise, Robert A. ; Wurfel, Mark M. ; Eichler, Evan E. ; Fu, Wenqing ; Smith, Joshua D. ; Tennessen, Jacob A. ; Peters, Ulrike ; Brzyski, Robert ; Curb, J. David ; Eaton, Charles B. ; Heiss, Gerardo ; Johnson, Karen C. ; Lasser, Norman ; Lin, Dan-Yu ; Logsdon, Benjamin A. ; Manson, JoAnn E. ; Martin, Lisa ; Stein, Evan ; Applebaum-Bowden, Deborah ; Paltoo, Dina N. ; Sturcke, Anne

American journal of human genetics, 2014-02, Vol.94 (2), p.233-245 [Periódico revisado por pares]

United States: Elsevier Inc

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7
Joint Linkage and Association Analysis with Exome Sequence Data Implicates SLC25A40 in Hypertriglyceridemia
Joint Linkage and Association Analysis with Exome Sequence Data Implicates SLC25A40 in Hypertriglyceridemia
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Joint Linkage and Association Analysis with Exome Sequence Data Implicates SLC25A40 in Hypertriglyceridemia

Rosenthal, Elisabeth A. ; Ranchalis, Jane ; Crosslin, David R. ; Burt, Amber ; Brunzell, John D. ; Motulsky, Arno G. ; Nickerson, Deborah A. ; Wijsman, Ellen M. ; Jarvik, Gail P.

American journal of human genetics, 2013-12, Vol.93 (6), p.1035-1045 [Periódico revisado por pares]

United States: Elsevier Inc

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8
Rare loss of function variants in candidate genes and risk of colorectal cancer
Rare loss of function variants in candidate genes and risk of colorectal cancer
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Rare loss of function variants in candidate genes and risk of colorectal cancer

Rosenthal, Elisabeth A. ; Shirts, Brian H. ; Amendola, Laura M. ; Horike-Pyne, Martha ; Robertson, Peggy D. ; Hisama, Fuki M. ; Bennett, Robin L. ; Dorschner, Michael O. ; Nickerson, Deborah A. ; Stanaway, Ian B. ; Nassir, Rami ; Vickers, Kathy T. ; Li, Christopher ; Grady, William M. ; Peters, Ulrike ; Jarvik, Gail P.

Human genetics, 2018-10, Vol.137 (10), p.795-806 [Periódico revisado por pares]

Berlin/Heidelberg: Springer Berlin Heidelberg

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9
Symptom Variability and Early Symptom Regression in the MAPP Study: A Prospective Study of Urological Chronic Pelvic Pain Syndrome
Symptom Variability and Early Symptom Regression in the MAPP Study: A Prospective Study of Urological Chronic Pelvic Pain Syndrome
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Symptom Variability and Early Symptom Regression in the MAPP Study: A Prospective Study of Urological Chronic Pelvic Pain Syndrome

Stephens-Shields, Alisa J ; Clemens, J. Quentin ; Jemielita, Thomas ; Farrar, John ; Sutcliffe, Siobhan ; Hou, Xiaoling ; Landis, J. Richard

The Journal of urology, 2016-11, Vol.196 (5), p.1450-1455 [Periódico revisado por pares]

United States: Elsevier Inc

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10
Elevated interleukin-6 levels in peritoneal fluid of patients with pelvic pathology
Elevated interleukin-6 levels in peritoneal fluid of patients with pelvic pathology
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Elevated interleukin-6 levels in peritoneal fluid of patients with pelvic pathology

Buyalos, Richard P. ; Funari, Vincent A. ; Azziz, Ricardo ; Watson, Joanna M. ; Martinez-Maza, Otoniel

Fertility and sterility, 1992-08, Vol.58 (2), p.302-306 [Periódico revisado por pares]

BIRMINGHAM: Elsevier Inc

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