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1
Mitochondrial population genomics supports a single pre-clovis origin with a coastal route for the peopling of the americas
Mitochondrial population genomics supports a single pre-clovis origin with a coastal route for the peopling of the americas
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Mitochondrial population genomics supports a single pre-clovis origin with a coastal route for the peopling of the americas

Nelson J. R. Fagundes Ricardo Kanitz; Roberta Eckert; Ana C. S Valls; Maurício R Bogo; Francisco M Salzano; David Glenn Smith; Wilson A Silva Junior; Marco A Zago; Andrea K Ribeiro-dos-Santos; Sidney E. B Santos; Maria Luiza Petzl-Erler; Sandro L Bonatto

American journal of human genetics 2008 v. 82, n. 3, p. 583-592, 2008

Cambridge 2008

Localização: FMRP - Fac. Medicina de Ribeirão Preto    (pcd 1667628 )(Acessar)

2
Mitochondrial population genomics supports a single pre-clovis origin with a coastal route for the peopling of the americas
Mitochondrial population genomics supports a single pre-clovis origin with a coastal route for the peopling of the americas
Material Type:
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Mitochondrial population genomics supports a single pre-clovis origin with a coastal route for the peopling of the americas

Nelson J. R. Fagundes Ricardo Kanitz; Roberta Eckert; Ana C. S Valls; Maurício R Bogo; Francisco M Salzano; David Glenn Smith; Wilson A Silva Junior; Marco A Zago; Andrea K Ribeiro-dos-Santos; Sidney E. B Santos; Maria Luiza Petzl-Erler; Sandro L Bonatto

American journal of human genetics 2008 v. 82, n. 3, p. 583-592, 2008

Cambridge 2008

Localização: FMRP - Fac. Medicina de Ribeirão Preto    (pcd 1667628 )(Acessar)

3
High-throughput splicing assays identify missense and silent splice-disruptive POU1F1 variants underlying pituitary hormone deficiency
High-throughput splicing assays identify missense and silent splice-disruptive POU1F1 variants underlying pituitary hormone deficiency
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High-throughput splicing assays identify missense and silent splice-disruptive POU1F1 variants underlying pituitary hormone deficiency

Peter Gergics Cathy Smith; Hironori Bando; Alexander Augusto de Lima Jorge; Denise Rockstroh-lippold; Sebastian A Vishnopolska; Frederic Castinetti; Mariam Maksutova; Luciani Renata Silveira Carvalho; Berenice Bilharinho de Mendonca

American journal of human genetics v. 108, n. 8, p. 1526-1539, 2021

Cambridge 2021

Acesso online. A biblioteca também possui exemplares impressos.

4
Genome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DNA
Genome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DNA
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Genome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DNA

Turner, Tychele N. ; Hormozdiari, Fereydoun ; Duyzend, Michael H. ; McClymont, Sarah A. ; Hook, Paul W. ; Iossifov, Ivan ; Raja, Archana ; Baker, Carl ; Hoekzema, Kendra ; Stessman, Holly A. ; Zody, Michael C. ; Nelson, Bradley J. ; Huddleston, John ; Sandstrom, Richard ; Smith, Joshua D. ; Hanna, David ; Swanson, James M. ; Faustman, Elaine M. ; Bamshad, Michael J. ; Stamatoyannopoulos, John ; Nickerson, Deborah A. ; McCallion, Andrew S. ; Darnell, Robert ; Eichler, Evan E.

American journal of human genetics, 2016-01, Vol.98 (1), p.58-74 [Periódico revisado por pares]

United States: Elsevier Inc

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5
WNT1 Mutations in Families Affected by Moderately Severe and Progressive Recessive Osteogenesis Imperfecta
WNT1 Mutations in Families Affected by Moderately Severe and Progressive Recessive Osteogenesis Imperfecta
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WNT1 Mutations in Families Affected by Moderately Severe and Progressive Recessive Osteogenesis Imperfecta

Pyott, Shawna M. ; Tran, Thao T. ; Leistritz, Dru F. ; Pepin, Melanie G. ; Mendelsohn, Nancy J. ; Temme, Renee T. ; Fernandez, Bridget A. ; Elsayed, Solaf M. ; Elsobky, Ezzat ; Verma, Ishwar ; Nair, Sreelata ; Turner, Emily H. ; Smith, Joshua D. ; Jarvik, Gail P. ; Byers, Peter H.

American journal of human genetics, 2013-04, Vol.92 (4), p.590-597 [Periódico revisado por pares]

United States: Elsevier Inc

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6
Mosaicism of the UDP-Galactose Transporter SLC35A2 Causes a Congenital Disorder of Glycosylation
Mosaicism of the UDP-Galactose Transporter SLC35A2 Causes a Congenital Disorder of Glycosylation
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Mosaicism of the UDP-Galactose Transporter SLC35A2 Causes a Congenital Disorder of Glycosylation

Ng, Bobby G. ; Buckingham, Kati J. ; Raymond, Kimiyo ; Kircher, Martin ; Turner, Emily H. ; He, Miao ; Smith, Joshua D. ; Eroshkin, Alexey ; Szybowska, Marta ; Losfeld, Marie E. ; Chong, Jessica X. ; Kozenko, Mariya ; Li, Chumei ; Patterson, Marc C. ; Gilbert, Rodney D. ; Nickerson, Deborah A. ; Shendure, Jay ; Bamshad, Michael J. ; Freeze, Hudson H.

American journal of human genetics, 2013-04, Vol.92 (4), p.632-636 [Periódico revisado por pares]

United States: Elsevier Inc

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7
Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes
Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes
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Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes

Harel, Tamar ; Yoon, Wan Hee ; Garone, Caterina ; Gu, Shen ; Coban-Akdemir, Zeynep ; Eldomery, Mohammad K. ; Posey, Jennifer E. ; Jhangiani, Shalini N. ; Rosenfeld, Jill A. ; Cho, Megan T. ; Fox, Stephanie ; Withers, Marjorie ; Brooks, Stephanie M. ; Chiang, Theodore ; Duraine, Lita ; Erdin, Serkan ; Yuan, Bo ; Shao, Yunru ; Moussallem, Elie ; Lamperti, Costanza ; Donati, Maria A. ; Smith, Joshua D. ; McLaughlin, Heather M. ; Eng, Christine M. ; Walkiewicz, Magdalena ; Xia, Fan ; Pippucci, Tommaso ; Magini, Pamela ; Seri, Marco ; Zeviani, Massimo ; Hirano, Michio ; Hunter, Jill V. ; Srour, Myriam ; Zanigni, Stefano ; Lewis, Richard Alan ; Muzny, Donna M. ; Lotze, Timothy E. ; Boerwinkle, Eric ; Gibbs, Richard A. ; Hickey, Scott E. ; Graham, Brett H. ; Yang, Yaping ; Buhas, Daniela ; Martin, Donna M. ; Potocki, Lorraine ; Graziano, Claudio ; Bellen, Hugo J. ; Lupski, James R.

American journal of human genetics, 2016-10, Vol.99 (4), p.831-845 [Periódico revisado por pares]

United States: Elsevier Inc

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8
A Human Homeotic Transformation Resulting from Mutations in PLCB4 and GNAI3 Causes Auriculocondylar Syndrome
A Human Homeotic Transformation Resulting from Mutations in PLCB4 and GNAI3 Causes Auriculocondylar Syndrome
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A Human Homeotic Transformation Resulting from Mutations in PLCB4 and GNAI3 Causes Auriculocondylar Syndrome

Rieder, Mark J. ; Green, Glenn E. ; Park, Sarah S. ; Stamper, Brendan D. ; Gordon, Christopher T. ; Johnson, Jason M. ; Cunniff, Christopher M. ; Smith, Joshua D. ; Emery, Sarah B. ; Lyonnet, Stanislas ; Amiel, Jeanne ; Holder, Muriel ; Heggie, Andrew A. ; Bamshad, Michael J. ; Nickerson, Deborah A. ; Cox, Timothy C. ; Hing, Anne V. ; Horst, Jeremy A. ; Cunningham, Michael L.

American journal of human genetics, 2012-05, Vol.90 (5), p.907-914 [Periódico revisado por pares]

United States: Elsevier Inc

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9
Mutations in KARS, Encoding Lysyl-tRNA Synthetase, Cause Autosomal-Recessive Nonsyndromic Hearing Impairment DFNB89
Mutations in KARS, Encoding Lysyl-tRNA Synthetase, Cause Autosomal-Recessive Nonsyndromic Hearing Impairment DFNB89
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Mutations in KARS, Encoding Lysyl-tRNA Synthetase, Cause Autosomal-Recessive Nonsyndromic Hearing Impairment DFNB89

Santos-Cortez, Regie Lyn P. ; Lee, Kwanghyuk ; Azeem, Zahid ; Antonellis, Patrick J. ; Pollock, Lana M. ; Khan, Saadullah ; Irfanullah ; Andrade-Elizondo, Paula B. ; Chiu, Ilene ; Adams, Mark D. ; Basit, Sulman ; Smith, Joshua D. ; Nickerson, Deborah A. ; McDermott, Brian M. ; Ahmad, Wasim ; Leal, Suzanne M.

American journal of human genetics, 2013-07, Vol.93 (1), p.132-140 [Periódico revisado por pares]

United States: Elsevier Inc

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10
Rare-Variant Extensions of the Transmission Disequilibrium Test: Application to Autism Exome Sequence Data
Rare-Variant Extensions of the Transmission Disequilibrium Test: Application to Autism Exome Sequence Data
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Rare-Variant Extensions of the Transmission Disequilibrium Test: Application to Autism Exome Sequence Data

He, Zongxiao ; O’Roak, Brian J. ; Smith, Joshua D. ; Wang, Gao ; Hooker, Stanley ; Santos-Cortez, Regie Lyn P. ; Li, Biao ; Kan, Mengyuan ; Krumm, Nik ; Nickerson, Deborah A. ; Shendure, Jay ; Eichler, Evan E. ; Leal, Suzanne M.

American journal of human genetics, 2014-01, Vol.94 (1), p.33-46 [Periódico revisado por pares]

United States: Elsevier Inc

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Deste Autor:

  1. Petzl-Erler, M
  2. Kanitz, R
  3. Fagundes, N
  4. Bonatto, S
  5. Eckert, R

Neste Assunto:

  1. Genetics & Heredity
  2. Humans
  3. Life Sciences & Biomedicine
  4. Science & Technology
  5. Male

  • Realização: ABCD-USP USP   Logos de Redes Sociais: Freepik

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