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Works matching IS 23732873 AND DT 2023 AND VI 9 AND IP 3

Results: 6

1

Contributions of rare and common variation to early-onset and atypical dementia risk.

Published in:

Cold Spring Harbor Molecular Case Studies, 2023, v. 9, n. 3, p. 1, doi. 10.1101/mcs.a006271

By:

Wright, Carter A.;
Taylor, Jared W.;
Cochran, Meagan;
Lawlor, James M. J.;
Moyers, Belle A.;
Amaral, Michelle D.;
Bonnstetter, Zachary T.;
Carter, Princess;
Solomon, Veronika;
Myers, Richard M.;
Love, Marissa Natelson;
Geldmacher, David S.;
Cooper, Sara J.;
Roberson, Erik D.;
Cochran, J. Nicholas

Publication type:

Article

2

FKBP14 kyphoscoliotic Ehlers-Danlos syndrome misdiagnosed as Larsen syndrome: a case report.

Published in:

2023

By:

Wiegand, Amy;
Kastury, Rama;
Neogi, Arpita;
Mani, Arya;
Bale, Allen;
Cox, Allison

Publication type:

Case Study

3

Evaluation of hypereosinophilia in a case of FLT3-mutant acute myeloid leukemia treated with gilteritinib.

Published in:

Cold Spring Harbor Molecular Case Studies, 2023, v. 9, n. 3, p. 1, doi. 10.1101/mcs.a006279

By:

Martinez-Gutierrez, Leslie N.;
Burgher, Blake C.;
Glynias, Manuel J.;
Alvarado, Daniel;
Griffiths, Elizabeth A.;
Glenn, Sean T.;
Sung, Pamela J.

Publication type:

Article

4

Clinical features of PPP2 syndrome type R5D (Jordan's syndrome) to support standardization of care.

Published in:

Cold Spring Harbor Molecular Case Studies, 2023, v. 9, n. 3, p. 1, doi. 10.1101/mcs.a006285

By:

Levine, Alexis D.;
Chung, Wendy K.

Publication type:

Article

5

Clinical case report: mosaic ANK3 pathogenic variant in a patient with autism spectrum disorder and neurodevelopmental delay.

Published in:

Cold Spring Harbor Molecular Case Studies, 2023, v. 9, n. 3, p. 1, doi. 10.1101/mcs.a006233

By:

Xiaolan Fang;
Fee, Timothy;
Davis, Jessica;
Stolerman, Elliot S.;
Caylor, Raymond C.

Publication type:

Article

6

Perinatal-lethal nonimmune fetal hydrops attributed to MECOM-associated bone marrow failure.

Published in:

Cold Spring Harbor Molecular Case Studies, 2023, v. 9, n. 3, p. 1, doi. 10.1101/mcs.a006289

By:

Dash, Camille A.;
Madden, Jill A.;
Cummings, Christy;
Rose, Melissa;
Wilson, Sheria D.;
Mori, Mari;
Agrawal, Pankaj B.;
Chaudhari, Bimal P.;
Wojcik, Monica H.

Publication type:

Article