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11
Single substitution in H3.3G34 alters DNMT3A recruitment to cause progressive neurodegeneration
Single substitution in H3.3G34 alters DNMT3A recruitment to cause progressive neurodegeneration
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Single substitution in H3.3G34 alters DNMT3A recruitment to cause progressive neurodegeneration

Khazaei, Sima ; Chen, Carol C.L. ; Andrade, Augusto Faria ; Kabir, Nisha ; Azarafshar, Pariya ; Morcos, Shahir M. ; França, Josiane Alves ; Lopes, Mariana ; Lund, Peder J. ; Danieau, Geoffroy ; Worme, Samantha ; Adnani, Lata ; Nzirorera, Nadine ; Chen, Xiao ; Yogarajah, Gayathri ; Russo, Caterina ; Zeinieh, Michele ; Wong, Cassandra J. ; Bryant, Laura ; Hébert, Steven ; Tong, Bethany ; Sihota, Tianna S. ; Faury, Damien ; Puligandla, Evan ; Jawhar, Wajih ; Sandy, Veronica ; Cowan, Mitra ; Nakada, Emily M. ; Jerome-Majewska, Loydie A. ; Ellezam, Benjamin ; Gomes, Carolina Cavalieri ; Denecke, Jonas ; Lessel, Davor ; McDonald, Marie T. ; Pizoli, Carolyn E. ; Taylor, Kathryn ; Cocanougher, Benjamin T. ; Bhoj, Elizabeth J. ; Gingras, Anne-Claude ; Garcia, Benjamin A. ; Lu, Chao ; Campos, Eric I. ; Kleinman, Claudia L. ; Garzia, Livia ; Jabado, Nada

Cell, 2023-03, Vol.186 (6), p.1162-1178.e20 [Periódico revisado por pares]

United States: Elsevier Inc

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12
Biallelic mutations in FDXR cause neurodegeneration associated with inflammation
Biallelic mutations in FDXR cause neurodegeneration associated with inflammation
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Biallelic mutations in FDXR cause neurodegeneration associated with inflammation

Slone, Jesse ; Peng, Yanyan ; Chamberlin, Adam ; Harris, Belinda ; Kaylor, Julie ; McDonald, Marie T ; Lemmon, Monica ; El-Dairi, Mays Antonine ; Tchapyjnikov, Dmitry ; Gonzalez-Krellwitz, Laura A ; Sellars, Elizabeth A ; McConkie-Rosell, Allyn ; Reinholdt, Laura G ; Huang, Taosheng

Journal of human genetics, 2018-12, Vol.63 (12), p.1211-1222 [Periódico revisado por pares]

England: Nature Publishing Group

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13
A comprehensive testing algorithm for the diagnosis of Fabry disease in males and females
A comprehensive testing algorithm for the diagnosis of Fabry disease in males and females
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A comprehensive testing algorithm for the diagnosis of Fabry disease in males and females

Stiles, Ashlee R. ; Zhang, Haoyue ; Dai, Jian ; McCaw, Patricia ; Beasley, James ; Rehder, Catherine ; Koeberl, Dwight D. ; McDonald, Marie ; Bali, Deeksha S. ; Young, Sarah P.

Molecular genetics and metabolism, 2020-07, Vol.130 (3), p.209-214 [Periódico revisado por pares]

United States: Elsevier Inc

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14
Novel association of Dandy-Walker malformation with CAPN15 variants expands the phenotype of oculogastrointestinal neurodevelopmental syndrome
Novel association of Dandy-Walker malformation with CAPN15 variants expands the phenotype of oculogastrointestinal neurodevelopmental syndrome
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Novel association of Dandy-Walker malformation with CAPN15 variants expands the phenotype of oculogastrointestinal neurodevelopmental syndrome

Beaman, M Makenzie ; Guidugli, Lucia ; Hammer, Monia ; Barrows, Chelsea ; Gregor, Anne ; Lee, Sangmoon ; Deak, Kristen L ; McDonald, Marie T ; Jensen, Courtney ; Zaki, Maha S ; Masri, Amira T ; Hobbs, Charlotte A ; Gleeson, Joseph G ; Cohen, Jennifer L

American journal of medical genetics. Part A, 2023-11, Vol.191 (11), p.2757-2767 [Periódico revisado por pares]

United States: Wiley Subscription Services, Inc

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15
CSGALNACT1‐congenital disorder of glycosylation: A mild skeletal dysplasia with advanced bone age
CSGALNACT1‐congenital disorder of glycosylation: A mild skeletal dysplasia with advanced bone age
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CSGALNACT1‐congenital disorder of glycosylation: A mild skeletal dysplasia with advanced bone age

Mizumoto, Shuji ; Janecke, Andreas R. ; Sadeghpour, Azita ; Povysil, Gundula ; McDonald, Marie T. ; Unger, Sheila ; Greber‐Platzer, Susanne ; Deak, Kristen L. ; Katsanis, Nicholas ; Superti‐Furga, Andrea ; Sugahara, Kazuyuki ; Davis, Erica E. ; Yamada, Shuhei ; Vodopiutz, Julia

Human mutation, 2020-03, Vol.41 (3), p.655-667 [Periódico revisado por pares]

United States: Hindawi Limited

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16
Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with “Corner Fractures”
Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with “Corner Fractures”
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Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with “Corner Fractures”

Lee, Chae Syng ; Fu, He ; Baratang, Nissan ; Rousseau, Justine ; Kumra, Heena ; Sutton, V. Reid ; Niceta, Marcello ; Ciolfi, Andrea ; Yamamoto, Guilherme ; Bertola, Débora ; Marcelis, Carlo L. ; Lugtenberg, Dorien ; Bartuli, Andrea ; Kim, Choel ; Hoover-Fong, Julie ; Sobreira, Nara ; Pauli, Richard ; Bacino, Carlos ; Krakow, Deborah ; Parboosingh, Jillian ; Yap, Patrick ; Kariminejad, Ariana ; McDonald, Marie T. ; Aracena, Mariana I. ; Lausch, Ekkehart ; Unger, Sheila ; Superti-Furga, Andrea ; Lu, James T. ; Cohn, Dan H. ; Tartaglia, Marco ; Lee, Brendan H. ; Reinhardt, Dieter P. ; Campeau, Philippe M.

American journal of human genetics, 2017-11, Vol.101 (5), p.815-823 [Periódico revisado por pares]

United States: Elsevier Inc

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17
Bundy, Jennifer Marie Mcdonald
Bundy, Jennifer Marie Mcdonald
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Verbete 		Adicionar ao Meu Espaço

Bundy, Jennifer Marie Mcdonald

American Men & Women of Science : A Biographical Directory of Today’s Leaders in Physical, Biological and Related Sciences: BEA-BUD, 2021, p.1510-1510

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18
Unraveling non-participation in genomic research: A complex interplay of barriers, facilitators, and sociocultural factors
Unraveling non-participation in genomic research: A complex interplay of barriers, facilitators, and sociocultural factors
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Unraveling non-participation in genomic research: A complex interplay of barriers, facilitators, and sociocultural factors

McConkie-Rosell, Allyn ; Spillmann, Rebecca C ; Schoch, Kelly ; Sullivan, Jennifer A ; Walley, Nicole ; McDonald, Marie ; Hooper, Stephen R ; Shashi, Vandana

Journal of genetic counseling, 2023-10, Vol.32 (5), p.993-1008 [Periódico revisado por pares]

United States: Blackwell Publishing Ltd

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19
Meaningful measures in cancer cachexia: implications for practice and research
Meaningful measures in cancer cachexia: implications for practice and research
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Meaningful measures in cancer cachexia: implications for practice and research

McDonald, James J ; Fallon, Marie T ; Laird, Barry J.A

Current opinion in supportive & palliative care, 2019-12, Vol.13 (4), p.323-327

United States: Copyright Wolters Kluwer Health, Inc. All rights reserved

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20
Hemimegalencephaly with Bannayan‐Riley‐Ruvalcaba syndrome
Hemimegalencephaly with Bannayan‐Riley‐Ruvalcaba syndrome
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Hemimegalencephaly with Bannayan‐Riley‐Ruvalcaba syndrome

Ghusayni, Ryan ; Sachdev, Monisha ; Gallentine, William ; Mikati, Mohamad A ; McDonald, Marie T

Epileptic disorders, 2018-02, Vol.20 (1), p.30-34 [Periódico revisado por pares]

France: Wiley Subscription Services, Inc

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Deste Autor:

  1. Alloza, C
  2. Fedor, J
  3. Bustillo, J
  4. Bertolino, A
  5. Davey, C

Neste Assunto:

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

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

Buscando em bases de dados remotas. Favor aguardar.