skip to main content
Language:
Results 1 2 3 4 5 next page
Result Number Material Type Add to My Shelf Action Record Details and Options
1
Effectiveness of Interventions Targeting Treatable Traits for the Management of Obstructive Airway Diseases: A Systematic Review and Meta-Analysis
Effectiveness of Interventions Targeting Treatable Traits for the Management of Obstructive Airway Diseases: A Systematic Review and Meta-Analysis
Material Type:
Article 		Add to e-Shelf

Effectiveness of Interventions Targeting Treatable Traits for the Management of Obstructive Airway Diseases: A Systematic Review and Meta-Analysis

Sarwar, Muhammad Rehan ; McDonald, Vanessa Marie ; Abramson, Michael John ; McLoughlin, Rebecca Frances ; Geethadevi, Gopisankar Mohanannair ; George, Johnson

The journal of allergy and clinical immunology in practice (Cambridge, MA), 2022-09, Vol.10 (9), p.2333-2345.e21 [Peer Reviewed Journal]

United States: Elsevier Inc

Full text available

Citations Cited by
2
A case report of mevalonate kinase deficiency in a 14-month-old female with fevers and lower extremity weakness
A case report of mevalonate kinase deficiency in a 14-month-old female with fevers and lower extremity weakness
Material Type:
Article 		Add to e-Shelf

A case report of mevalonate kinase deficiency in a 14-month-old female with fevers and lower extremity weakness

Coppola, Tiziana ; Becken, Bradford ; Van Mater, Heather ; McDonald, Marie Theresa ; Panayotti, Gabriela Maradiaga

BMC pediatrics, 2019-07, Vol.19 (1), p.245-245, Article 245 [Peer Reviewed Journal]

England: BioMed Central Ltd

Full text available

Citations Cited by
3
Clinical application of exome sequencing in undiagnosed genetic conditions
Clinical application of exome sequencing in undiagnosed genetic conditions
Material Type:
Article 		Add to e-Shelf

Clinical application of exome sequencing in undiagnosed genetic conditions

Need, Anna C ; Shashi, Vandana ; Hitomi, Yuki ; Schoch, Kelly ; Shianna, Kevin V ; McDonald, Marie T ; Meisler, Miriam H ; Goldstein, David B

Journal of medical genetics, 2012-06, Vol.49 (6), p.353-361 [Peer Reviewed Journal]

London: BMJ Publishing Group Ltd

Full text available

Citations Cited by
4
Mutations in NCAPG2 Cause a Severe Neurodevelopmental Syndrome that Expands the Phenotypic Spectrum of Condensinopathies
Mutations in NCAPG2 Cause a Severe Neurodevelopmental Syndrome that Expands the Phenotypic Spectrum of Condensinopathies
Material Type:
Article 		Add to e-Shelf

Mutations in NCAPG2 Cause a Severe Neurodevelopmental Syndrome that Expands the Phenotypic Spectrum of Condensinopathies

Khan, Tahir N. ; Khan, Kamal ; Sadeghpour, Azita ; Reynolds, Hannah ; Perilla, Yezmin ; McDonald, Marie T. ; Gallentine, William B. ; Baig, Shahid M. ; Allori, Alexander ; Angrist, Misha ; Ashley, Patricia ; Bidegain, Margarita ; Boyd, Brita ; Chambers, Eileen ; Cope, Heidi ; Cotten, C. Michael ; Curington, Theresa ; Davis, Erica E. ; Ellestad, Sarah ; Fisher, Kimberley ; French, Amanda ; Gallentine, William ; Goldberg, Ronald ; Hill, Kevin ; Kansagra, Sujay ; Katsanis, Nicholas ; Katsanis, Sara ; Kurtzberg, Joanne ; Marcus, Jeffrey ; McDonald, Marie ; Mikati, Mohammed ; Miller, Stephen ; Murtha, Amy ; Perilla, Yezmin ; Pizoli, Carolyn ; Purves, Todd ; Ross, Sherry ; Sadeghpour, Azita ; Smith, Edward ; Wiener, John ; Davis, Erica E. ; Katsanis, Nicholas

American journal of human genetics, 2019-01, Vol.104 (1), p.94-111 [Peer Reviewed Journal]

United States: Elsevier Inc

Full text available

Citations Cited by
5
Just Over the Hill: Black Appalachians in Jackson County, Western North Carolina
Just Over the Hill: Black Appalachians in Jackson County, Western North Carolina
Material Type:
Book 		Add to e-Shelf

Just Over the Hill: Black Appalachians in Jackson County, Western North Carolina

Victoria A. Casey McDonald

Western Carolina University, Hunter Library 2022

Full text available

Citations Cited by
6
CAMTA1‐related disorder: Phenotypic and molecular characterization of 26 new individuals and literature review
CAMTA1‐related disorder: Phenotypic and molecular characterization of 26 new individuals and literature review
Material Type:
Article 		Add to e-Shelf

CAMTA1‐related disorder: Phenotypic and molecular characterization of 26 new individuals and literature review

Al‐Kateb, Hussam ; Au, P. Y. Billie ; Berland, Siren ; Cogne, Benjamin ; Demurger, Florence ; Fluss, Joel ; Isidor, Bertrand ; Frank, L. Matthew ; Varvagiannis, Konstantinos ; Koolen, David A. ; McDonald, Marie ; Montgomery, Sarah ; Moortgat, Stéphanie ; Deprez, Marie ; Karadurmus, Deniz ; Paulsen, Julie ; Reis, André ; Rieger, Melissa ; Vasileiou, Georgia ; Willing, Marcia ; Shinawi, Marwan

Clinical genetics, 2024-03, Vol.105 (3), p.294-301 [Peer Reviewed Journal]

Oxford, UK: Blackwell Publishing Ltd

Full text available

Citations Cited by
7
Mutations in WDR62 , encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture
Mutations in WDR62 , encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture
Material Type:
Article 		Add to e-Shelf

Mutations in WDR62 , encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture

Walsh, Christopher A ; Yu, Timothy W ; Mochida, Ganeshwaran H ; Tischfield, David J ; Sgaier, Sema K ; Flores-Sarnat, Laura ; Sergi, Consolato M ; Topçu, Meral ; McDonald, Marie T ; Barry, Brenda J ; Felie, Jillian M ; Sunu, Christine ; Dobyns, William B ; Folkerth, Rebecca D ; Barkovich, A James

Nature genetics, 2010-11, Vol.42 (11), p.1015-1020 [Peer Reviewed Journal]

New York, NY: Nature Publishing Group

Full text available

Citations Cited by
8
A pathogenic variant in the SETBP1 hotspot results in a forme‐fruste Schinzel–Giedion syndrome
A pathogenic variant in the SETBP1 hotspot results in a forme‐fruste Schinzel–Giedion syndrome
Material Type:
Article 		Add to e-Shelf

A pathogenic variant in the SETBP1 hotspot results in a forme‐fruste Schinzel–Giedion syndrome

Sullivan, Jennifer A. ; Stong, Nicholas ; Baugh, Evan H. ; McDonald, Marie T. ; Takeuchi, Akihito ; Shashi, Vandana

American journal of medical genetics. Part A, 2020-08, Vol.182 (8), p.1947-1951 [Peer Reviewed Journal]

Hoboken, USA: John Wiley & Sons, Inc

Full text available

Citations Cited by
9
Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder
Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder
Material Type:
Article 		Add to e-Shelf

Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder

Liu, Ning ; Schoch, Kelly ; Luo, Xi ; Pena, Loren D M ; Bhavana, Venkata Hemanjani ; Kukolich, Mary K ; Stringer, Sarah ; Powis, Zöe ; Radtke, Kelly ; Mroske, Cameron ; Deak, Kristen L ; McDonald, Marie T ; McConkie-Rosell, Allyn ; Markert, M Louise ; Kranz, Peter G ; Stong, Nicholas ; Need, Anna C ; Bick, David ; Amaral, Michelle D ; Worthey, Elizabeth A ; Levy, Shawn ; Wangler, Michael F ; Bellen, Hugo J ; Shashi, Vandana ; Yamamoto, Shinya

Human molecular genetics, 2018-07, Vol.27 (14), p.2454-2465 [Peer Reviewed Journal]

England: Oxford University Press

Full text available

Citations Cited by
10
Single substitution in H3.3G34 alters DNMT3A recruitment to cause progressive neurodegeneration
Single substitution in H3.3G34 alters DNMT3A recruitment to cause progressive neurodegeneration
Material Type:
Article 		Add to e-Shelf

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 [Peer Reviewed Journal]

United States: Elsevier Inc

Full text available

Citations Cited by
Results 1 2 3 4 5 next page

Personalize your results

  1. Edit

Refine Search Results

Expand My Results

  1.   

Creation Date 

From To
Refine
  1. Before1960  (240)
  2. 1960To1975  (272)
  3. 1976To1991  (1,066)
  4. 1992To2008  (10,759)
  5. After 2008  (26,862)
  6. More options open sub menu

Language 

  1. English  (37,192)
  2. Japanese  (2,668)
  3. Spanish  (1,190)
  4. Portuguese  (1,030)
  5. French  (415)
  6. German  (147)
  7. Norwegian  (56)
  8. Italian  (25)
  9. Romanian  (17)
  10. Catalan  (12)
  11. Polish  (7)
  12. Dutch  (7)
  13. Turkish  (6)
  14. Russian  (4)
  15. Chinese  (4)
  16. Afrikaans  (4)
  17. Slovenian  (3)
  18. Czech  (2)
  19. Croatian  (2)
  20. Danish  (2)
  21. More options open sub menu

Suggested New Searches

Ignore my query and look for everything

by this author/creator:

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

on this subject:

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

  • Implemented by: ABCD-USP USP   Social Network Logos: Freepik

Searching Remote Databases, Please Wait

  • Searching for
  • inscope:(USP_VIDEOS),scope:("PRIMO"),scope:(USP_FISICO),scope:(USP_EREVISTAS),scope:(USP),scope:(USP_EBOOKS),scope:(USP_PRODUCAO),primo_central_multiple_fe
  • Show me what you have so far