共 24 条
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Holoprosencephaly: recommendations for diagnosis and management
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Kauvar, Emily F.
;
Muenke, Maximilian
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CURRENT OPINION IN PEDIATRICS,
2010, 22 (06)
:687-695

Kauvar, Emily F.
论文数: 0 引用数: 0
h-index: 0
机构:
NHGRI, Med Genet Branch, NIH, Bethesda, MD 20892 USA
Howard Hughes Med Inst, Natl Inst Hlth Res Scholars Program, Bethesda, MD 20817 USA NHGRI, Med Genet Branch, NIH, Bethesda, MD 20892 USA

Muenke, Maximilian
论文数: 0 引用数: 0
h-index: 0
机构:
NHGRI, Med Genet Branch, NIH, Bethesda, MD 20892 USA NHGRI, Med Genet Branch, NIH, Bethesda, MD 20892 USA
[12]
Integrated clinical and omics approach to rare diseases: novel genes and oligogenic inheritance in holoprosencephaly
[J].
Kim, Artem
;
Savary, Clara
;
Dubourg, Christele
;
Carre, Wilfrid
;
Mouden, Charlotte
;
Hamdi-Roze, Houda
;
Guyodo, Helene
;
Le Douce, Jerome
;
Pasquier, Laurent
;
Flori, Elisabeth
;
Gonzales, Marie
;
Beneteau, Claire
;
Boute, Odile
;
Attie-Bitach, Tania
;
Roume, Joelle
;
Goujon, Louise
;
Akloul, Linda
;
Odent, Sylvie
;
Watrin, Erwan
;
Dupe, Valerie
;
de Tayrac, Marie
;
David, Veronique
;
Genin, Emmanuelle
;
Campion, Dominique
;
Dartigues, Jean-Franc Comma Ois
;
Deleuze, Jean-Francois
;
Lambert, Jean-Charles
;
Redon, Richard
;
Ludwig, Thomas
;
Grenier-Boley, Benjamin
;
Letort, Sebastien
;
Lindenbaum, Pierre
;
Meyer, Vincent
;
Quenez, Olivier
;
Dina, Christian
;
Bellenguez, Celine
;
Charbonnier-Le Clezio, Camille
;
Giemza, Joanna
;
Chatel, Stephanie
;
Ferec, Claude
;
Le Marec, Herve
;
Letenneur, Luc
;
Nicolas, Gael
;
Rouault, Karen
;
Bacq, Delphine
;
Boland, Anne
;
Lechner, Doris
;
Wijmenga, Cisca
;
Swertz, Morris A.
;
Slagboom, P. Eline
.
BRAIN,
2019, 142
:35-49

Kim, Artem
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Rennes, CNRS, UMR 6290, IGDR, F-35000 Rennes, France Univ Rennes, CNRS, UMR 6290, IGDR, F-35000 Rennes, France

Savary, Clara
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Rennes, CNRS, UMR 6290, IGDR, F-35000 Rennes, France Univ Rennes, CNRS, UMR 6290, IGDR, F-35000 Rennes, France

Dubourg, Christele
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Rennes, CNRS, UMR 6290, IGDR, F-35000 Rennes, France
CHU, Serv Genet Mol & Genom, Rennes, France Univ Rennes, CNRS, UMR 6290, IGDR, F-35000 Rennes, France

Carre, Wilfrid
论文数: 0 引用数: 0
h-index: 0
机构:
CHU, Serv Genet Mol & Genom, Rennes, France Univ Rennes, CNRS, UMR 6290, IGDR, F-35000 Rennes, France

Mouden, Charlotte
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Rennes, CNRS, UMR 6290, IGDR, F-35000 Rennes, France Univ Rennes, CNRS, UMR 6290, IGDR, F-35000 Rennes, France

Hamdi-Roze, Houda
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Rennes, CNRS, UMR 6290, IGDR, F-35000 Rennes, France
CHU, Serv Genet Mol & Genom, Rennes, France Univ Rennes, CNRS, UMR 6290, IGDR, F-35000 Rennes, France

Guyodo, Helene
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Rennes, CNRS, UMR 6290, IGDR, F-35000 Rennes, France Univ Rennes, CNRS, UMR 6290, IGDR, F-35000 Rennes, France

Le Douce, Jerome
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Rennes, CNRS, UMR 6290, IGDR, F-35000 Rennes, France Univ Rennes, CNRS, UMR 6290, IGDR, F-35000 Rennes, France

Pasquier, Laurent
论文数: 0 引用数: 0
h-index: 0
机构:
CHU, Serv Genet Clin, Rennes, France Univ Rennes, CNRS, UMR 6290, IGDR, F-35000 Rennes, France

Flori, Elisabeth
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Hautepierre, HUS, Lab Cytogenet Cytol & Histol Quantitat, Strasbourg, France Univ Rennes, CNRS, UMR 6290, IGDR, F-35000 Rennes, France

Gonzales, Marie
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Armand Trousseau, Serv Genet & Embryol Med, Paris, France Univ Rennes, CNRS, UMR 6290, IGDR, F-35000 Rennes, France

Beneteau, Claire
论文数: 0 引用数: 0
h-index: 0
机构:
CHU, Serv Genet, Nantes, France Univ Rennes, CNRS, UMR 6290, IGDR, F-35000 Rennes, France

Boute, Odile
论文数: 0 引用数: 0
h-index: 0
机构:
CHU, Serv Genet, Lille, France Univ Rennes, CNRS, UMR 6290, IGDR, F-35000 Rennes, France

Attie-Bitach, Tania
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Paris 05, Hop Necker Enfants Malad, Serv Histol Embryol Cytogenet, 149 Rue Sevres, F-75015 Paris, France Univ Rennes, CNRS, UMR 6290, IGDR, F-35000 Rennes, France

Roume, Joelle
论文数: 0 引用数: 0
h-index: 0
机构:
Poissy Hosp GHU PIFO, Ctr Reference AnDDI Rares, Dept Clin Genet, Poissy, France Univ Rennes, CNRS, UMR 6290, IGDR, F-35000 Rennes, France

Goujon, Louise
论文数: 0 引用数: 0
h-index: 0
机构:
CHU, Serv Genet Clin, Rennes, France Univ Rennes, CNRS, UMR 6290, IGDR, F-35000 Rennes, France

Akloul, Linda
论文数: 0 引用数: 0
h-index: 0
机构:
CHU, Serv Genet Clin, Rennes, France Univ Rennes, CNRS, UMR 6290, IGDR, F-35000 Rennes, France

Odent, Sylvie
论文数: 0 引用数: 0
h-index: 0
机构:
CHU, Serv Genet Clin, Rennes, France Univ Rennes, CNRS, UMR 6290, IGDR, F-35000 Rennes, France

Watrin, Erwan
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Rennes, CNRS, UMR 6290, IGDR, F-35000 Rennes, France Univ Rennes, CNRS, UMR 6290, IGDR, F-35000 Rennes, France

Dupe, Valerie
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Rennes, CNRS, UMR 6290, IGDR, F-35000 Rennes, France Univ Rennes, CNRS, UMR 6290, IGDR, F-35000 Rennes, France

de Tayrac, Marie
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Rennes, CNRS, UMR 6290, IGDR, F-35000 Rennes, France
CHU, Serv Genet Mol & Genom, Rennes, France Univ Rennes, CNRS, UMR 6290, IGDR, F-35000 Rennes, France

David, Veronique
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Rennes, CNRS, UMR 6290, IGDR, F-35000 Rennes, France
CHU, Serv Genet Mol & Genom, Rennes, France Univ Rennes, CNRS, UMR 6290, IGDR, F-35000 Rennes, France

Genin, Emmanuelle
论文数: 0 引用数: 0
h-index: 0
机构: Univ Rennes, CNRS, UMR 6290, IGDR, F-35000 Rennes, France

Campion, Dominique
论文数: 0 引用数: 0
h-index: 0
机构: Univ Rennes, CNRS, UMR 6290, IGDR, F-35000 Rennes, France

Dartigues, Jean-Franc Comma Ois
论文数: 0 引用数: 0
h-index: 0
机构: Univ Rennes, CNRS, UMR 6290, IGDR, F-35000 Rennes, France

Deleuze, Jean-Francois
论文数: 0 引用数: 0
h-index: 0
机构: Univ Rennes, CNRS, UMR 6290, IGDR, F-35000 Rennes, France

Lambert, Jean-Charles
论文数: 0 引用数: 0
h-index: 0
机构: Univ Rennes, CNRS, UMR 6290, IGDR, F-35000 Rennes, France

Redon, Richard
论文数: 0 引用数: 0
h-index: 0
机构: Univ Rennes, CNRS, UMR 6290, IGDR, F-35000 Rennes, France

Ludwig, Thomas
论文数: 0 引用数: 0
h-index: 0
机构: Univ Rennes, CNRS, UMR 6290, IGDR, F-35000 Rennes, France

Grenier-Boley, Benjamin
论文数: 0 引用数: 0
h-index: 0
机构: Univ Rennes, CNRS, UMR 6290, IGDR, F-35000 Rennes, France

Letort, Sebastien
论文数: 0 引用数: 0
h-index: 0
机构: Univ Rennes, CNRS, UMR 6290, IGDR, F-35000 Rennes, France

Lindenbaum, Pierre
论文数: 0 引用数: 0
h-index: 0
机构: Univ Rennes, CNRS, UMR 6290, IGDR, F-35000 Rennes, France

Meyer, Vincent
论文数: 0 引用数: 0
h-index: 0
机构: Univ Rennes, CNRS, UMR 6290, IGDR, F-35000 Rennes, France

Quenez, Olivier
论文数: 0 引用数: 0
h-index: 0
机构: Univ Rennes, CNRS, UMR 6290, IGDR, F-35000 Rennes, France

Dina, Christian
论文数: 0 引用数: 0
h-index: 0
机构: Univ Rennes, CNRS, UMR 6290, IGDR, F-35000 Rennes, France

Bellenguez, Celine
论文数: 0 引用数: 0
h-index: 0
机构: Univ Rennes, CNRS, UMR 6290, IGDR, F-35000 Rennes, France

Charbonnier-Le Clezio, Camille
论文数: 0 引用数: 0
h-index: 0
机构: Univ Rennes, CNRS, UMR 6290, IGDR, F-35000 Rennes, France

Giemza, Joanna
论文数: 0 引用数: 0
h-index: 0
机构: Univ Rennes, CNRS, UMR 6290, IGDR, F-35000 Rennes, France

Chatel, Stephanie
论文数: 0 引用数: 0
h-index: 0
机构: Univ Rennes, CNRS, UMR 6290, IGDR, F-35000 Rennes, France

Ferec, Claude
论文数: 0 引用数: 0
h-index: 0
机构: Univ Rennes, CNRS, UMR 6290, IGDR, F-35000 Rennes, France

Le Marec, Herve
论文数: 0 引用数: 0
h-index: 0
机构: Univ Rennes, CNRS, UMR 6290, IGDR, F-35000 Rennes, France

Letenneur, Luc
论文数: 0 引用数: 0
h-index: 0
机构: Univ Rennes, CNRS, UMR 6290, IGDR, F-35000 Rennes, France

Nicolas, Gael
论文数: 0 引用数: 0
h-index: 0
机构: Univ Rennes, CNRS, UMR 6290, IGDR, F-35000 Rennes, France

Rouault, Karen
论文数: 0 引用数: 0
h-index: 0
机构: Univ Rennes, CNRS, UMR 6290, IGDR, F-35000 Rennes, France

Bacq, Delphine
论文数: 0 引用数: 0
h-index: 0
机构: Univ Rennes, CNRS, UMR 6290, IGDR, F-35000 Rennes, France

Boland, Anne
论文数: 0 引用数: 0
h-index: 0
机构: Univ Rennes, CNRS, UMR 6290, IGDR, F-35000 Rennes, France

Lechner, Doris
论文数: 0 引用数: 0
h-index: 0
机构: Univ Rennes, CNRS, UMR 6290, IGDR, F-35000 Rennes, France

Wijmenga, Cisca
论文数: 0 引用数: 0
h-index: 0
机构: Univ Rennes, CNRS, UMR 6290, IGDR, F-35000 Rennes, France

Swertz, Morris A.
论文数: 0 引用数: 0
h-index: 0
机构: Univ Rennes, CNRS, UMR 6290, IGDR, F-35000 Rennes, France

Slagboom, P. Eline
论文数: 0 引用数: 0
h-index: 0
机构: Univ Rennes, CNRS, UMR 6290, IGDR, F-35000 Rennes, France
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Molecular testing in holoprosencephaly
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Kruszka, Paul
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Martinez, Ariel F.
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Muenke, Maximilian
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AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS,
2018, 178 (02)
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Kruszka, Paul
论文数: 0 引用数: 0
h-index: 0
机构:
NHGRI, Med Genet Branch, NIH, 35 Convent Dr,1B207, Bethesda, MD 22309 USA NHGRI, Med Genet Branch, NIH, 35 Convent Dr,1B207, Bethesda, MD 22309 USA

Martinez, Ariel F.
论文数: 0 引用数: 0
h-index: 0
机构:
NHGRI, Med Genet Branch, NIH, 35 Convent Dr,1B207, Bethesda, MD 22309 USA NHGRI, Med Genet Branch, NIH, 35 Convent Dr,1B207, Bethesda, MD 22309 USA

Muenke, Maximilian
论文数: 0 引用数: 0
h-index: 0
机构:
NHGRI, Med Genet Branch, NIH, 35 Convent Dr,1B207, Bethesda, MD 22309 USA NHGRI, Med Genet Branch, NIH, 35 Convent Dr,1B207, Bethesda, MD 22309 USA
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NIDDK, Adipocyte Biol & Gene Regulat Sect, Lab Endocrinol & Receptor Biol, NIH, Bethesda, MD 20892 USA NIDDK, Adipocyte Biol & Gene Regulat Sect, Lab Endocrinol & Receptor Biol, NIH, Bethesda, MD 20892 USA

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NIDDK, Adipocyte Biol & Gene Regulat Sect, Lab Endocrinol & Receptor Biol, NIH, Bethesda, MD 20892 USA
George Washington Univ, Dept Phys, Washington, DC 20052 USA NIDDK, Adipocyte Biol & Gene Regulat Sect, Lab Endocrinol & Receptor Biol, NIH, Bethesda, MD 20892 USA

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h-index: 0
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NIDDK, Adipocyte Biol & Gene Regulat Sect, Lab Endocrinol & Receptor Biol, NIH, Bethesda, MD 20892 USA
Korea Basic Sci Inst, Chuncheon Ctr, Chunchon, South Korea NIDDK, Adipocyte Biol & Gene Regulat Sect, Lab Endocrinol & Receptor Biol, NIH, Bethesda, MD 20892 USA

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h-index: 0
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NIDDK, Adipocyte Biol & Gene Regulat Sect, Lab Endocrinol & Receptor Biol, NIH, Bethesda, MD 20892 USA NIDDK, Adipocyte Biol & Gene Regulat Sect, Lab Endocrinol & Receptor Biol, NIH, Bethesda, MD 20892 USA

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NIAMSD, Lab Muscle Stem Cells & Gene Regulat, NIH, Bethesda, MD 20892 USA NIDDK, Adipocyte Biol & Gene Regulat Sect, Lab Endocrinol & Receptor Biol, NIH, Bethesda, MD 20892 USA

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NIDDK, Adipocyte Biol & Gene Regulat Sect, Lab Endocrinol & Receptor Biol, NIH, Bethesda, MD 20892 USA NIDDK, Adipocyte Biol & Gene Regulat Sect, Lab Endocrinol & Receptor Biol, NIH, Bethesda, MD 20892 USA

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NIAMSD, Lab Muscle Stem Cells & Gene Regulat, NIH, Bethesda, MD 20892 USA NIDDK, Adipocyte Biol & Gene Regulat Sect, Lab Endocrinol & Receptor Biol, NIH, Bethesda, MD 20892 USA

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NIDDK, Adipocyte Biol & Gene Regulat Sect, Lab Endocrinol & Receptor Biol, NIH, Bethesda, MD 20892 USA NIDDK, Adipocyte Biol & Gene Regulat Sect, Lab Endocrinol & Receptor Biol, NIH, Bethesda, MD 20892 USA

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George Washington Univ, Dept Phys, Washington, DC 20052 USA
George Washington Univ, Dept Anat & Regenerat Biol, Washington, DC USA NIDDK, Adipocyte Biol & Gene Regulat Sect, Lab Endocrinol & Receptor Biol, NIH, Bethesda, MD 20892 USA

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ShanghaiTech Univ, Shanghai Inst Adv Immunochem Studies, Shanghai, Peoples R China ShanghaiTech Univ, Shanghai Inst Adv Immunochem Studies, Shanghai, Peoples R China

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NICHHD, NIH, Bethesda, MD 20892 USA NHGRI, Med Genet Branch, NIH, Bethesda, MD 20892 USA

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NHGRI, Med Genet Branch, NIH, Bethesda, MD 20892 USA NHGRI, Med Genet Branch, NIH, Bethesda, MD 20892 USA

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Univ Washington, Dept Pediat, Seattle, WA 98195 USA Univ Washington, Dept Genome Sci, Seattle, WA 98195 USA

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Hannibal, Mark C.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Washington, Dept Pediat, Seattle, WA 98195 USA
Seattle Childrens Hosp, Seattle, WA USA Univ Washington, Dept Genome Sci, Seattle, WA 98195 USA

McMillin, Margaret J.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Washington, Dept Pediat, Seattle, WA 98195 USA Univ Washington, Dept Genome Sci, Seattle, WA 98195 USA

Gildersleeve, Heidi I.
论文数: 0 引用数: 0
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Univ Washington, Dept Pediat, Seattle, WA 98195 USA Univ Washington, Dept Genome Sci, Seattle, WA 98195 USA

Beck, Anita E.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Washington, Dept Pediat, Seattle, WA 98195 USA
Seattle Childrens Hosp, Seattle, WA USA Univ Washington, Dept Genome Sci, Seattle, WA 98195 USA

Tabor, Holly K.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Washington, Dept Pediat, Seattle, WA 98195 USA
Seattle Childrens Hosp, Seattle, WA USA Univ Washington, Dept Genome Sci, Seattle, WA 98195 USA

Cooper, Gregory M.
论文数: 0 引用数: 0
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机构:
Univ Washington, Dept Genome Sci, Seattle, WA 98195 USA Univ Washington, Dept Genome Sci, Seattle, WA 98195 USA

Mefford, Heather C.
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h-index: 0
机构:
Univ Washington, Dept Pediat, Seattle, WA 98195 USA Univ Washington, Dept Genome Sci, Seattle, WA 98195 USA

Lee, Choli
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Washington, Dept Genome Sci, Seattle, WA 98195 USA Univ Washington, Dept Genome Sci, Seattle, WA 98195 USA

Turner, Emily H.
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h-index: 0
机构:
Univ Washington, Dept Genome Sci, Seattle, WA 98195 USA Univ Washington, Dept Genome Sci, Seattle, WA 98195 USA

Smith, Joshua D.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Washington, Dept Genome Sci, Seattle, WA 98195 USA Univ Washington, Dept Genome Sci, Seattle, WA 98195 USA

Rieder, Mark J.
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Univ Washington, Dept Genome Sci, Seattle, WA 98195 USA Univ Washington, Dept Genome Sci, Seattle, WA 98195 USA

Yoshiura, Koh-ichiro
论文数: 0 引用数: 0
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机构:
Nagasaki Univ, Dept Human Genet, Grad Sch Biomed Sci, Nagasaki 852, Japan Univ Washington, Dept Genome Sci, Seattle, WA 98195 USA

Matsumoto, Naomichi
论文数: 0 引用数: 0
h-index: 0
机构:
Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa 232, Japan Univ Washington, Dept Genome Sci, Seattle, WA 98195 USA

Ohta, Tohru
论文数: 0 引用数: 0
h-index: 0
机构:
Hlth Sci Univ Hokkaido, Res Inst Personalized Hlth Sci, Sapporo, Hokkaido, Japan Univ Washington, Dept Genome Sci, Seattle, WA 98195 USA

Niikawa, Norio
论文数: 0 引用数: 0
h-index: 0
机构:
Hlth Sci Univ Hokkaido, Res Inst Personalized Hlth Sci, Sapporo, Hokkaido, Japan Univ Washington, Dept Genome Sci, Seattle, WA 98195 USA

Nickerson, Deborah A.
论文数: 0 引用数: 0
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Univ Washington, Dept Genome Sci, Seattle, WA 98195 USA Univ Washington, Dept Genome Sci, Seattle, WA 98195 USA

Bamshad, Michael J.
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h-index: 0
机构:
Univ Washington, Dept Genome Sci, Seattle, WA 98195 USA
Univ Washington, Dept Pediat, Seattle, WA 98195 USA
Seattle Childrens Hosp, Seattle, WA USA Univ Washington, Dept Genome Sci, Seattle, WA 98195 USA

Shendure, Jay
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机构:
Univ Washington, Dept Genome Sci, Seattle, WA 98195 USA Univ Washington, Dept Genome Sci, Seattle, WA 98195 USA
[20]
Epidemiology of Holoprosencephaly: Prevalence and Risk Factors
[J].
Orioli, Ieda M.
;
Castilla, Eduardo E.
.
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS,
2010, 154C (01)
:13-21

Orioli, Ieda M.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Fed Rio de Janeiro, BR-21941 Rio De Janeiro, Brazil Univ Fed Rio de Janeiro, BR-21941 Rio De Janeiro, Brazil

Castilla, Eduardo E.
论文数: 0 引用数: 0
h-index: 0
机构:
Natl Res Councils Argentina CONICET, Buenos Aires, DF, Argentina
Inst Oswaldo Cruz, Lab Congenital Malformat, BR-20001 Rio De Janeiro, Brazil
Inst Univ CEMIC, Buenos Aires, DF, Argentina Univ Fed Rio de Janeiro, BR-21941 Rio De Janeiro, Brazil