Ich stimme zu, dass diese Seite Cookies verwende. Weitere Informationen finden Sie unter unseren Datenschutzerklärungen .
X
Macmurdo, Colleen F.
10  Ergebnisse:
Personensuche X
?
1

Magnetic resonance imaging diagnosis of a skeletal dysplasi..:

Jack, Christina F. ; Birkemeier, Krista L. ; Santiago, Jose M...
Pediatric Radiology.  51 (2021)  9 - p. 1758-1761 , 2021
Link: https://doi.org/10.1007/..
 
?
2

Protein modeling and clinical description of a novel in‐fra..:

Richter Jr., John E. ; Zimmermann, Michael T. ; Blackburn, Patrick R....
Molecular Genetics & Genomic Medicine.  6 (2018)  6 - p. 1229-1235 , 2018
Link: https://doi.org/10.1002/..
 
?
3

RASA1 somatic mutation and variable expressivity in capilla..:

Macmurdo, Colleen F. ; Wooderchak‐Donahue, Whitney ; Bayrak‐Toydemir, Pinar...
American Journal of Medical Genetics Part A.  170 (2016)  6 - p. 1450-1454 , 2016
Link: https://doi.org/10.1002/..
 
?
4

Protein modeling and clinical description of a novel in-fra..:

Richter Jr., John E ; Zimmermann, Michael T ; Blackburn, Patrick R...
http://eprints.gla.ac.uk/216568/1/216568.pdf.  , 2018
Link: http://eprints.gla.ac.uk..
 
?
5

De novo nonsense mutations in KAT6A, a lysine acetyl-transf..:

Arboleda, Valerie A ; Lee, Hane ; Dorrani, Naghmeh...
qt80m7r988.  , 2015
Link: https://escholarship.org..
 
?
6

The Perfect Storm: A Case of Rapid-Onset Obesity With Hypov..:

Roby, Paul ; Smith Beltran, Gretta ; Finch, Casey...
Cureus.  , 2023
Link: https://doi.org/10.7759/..
 
?
7

Expanding the clinical and genetic spectrum of PCYT2-relate..:

Vélez-Santamaría, Valentina ; Verdura, Edgard ; Macmurdo, Colleen...
Brain.  143 (2020)  9 - p. e76-e76 , 2020
Link: https://doi.org/10.1093/..
 
?
8

Persistent hyperkalemia in an otherwise healthy 4-month-old..:

Yu, Grace ; Hashim, Faris ; Macmurdo, Colleen.
Pediatric Nephrology.  35 (2020)  11 - p. 2099-2100 , 2020
Link: https://doi.org/10.1007/..
 
?
9

Persistent hyperkalemia in an otherwise healthy 4-month-old..:

Yu, Grace ; Hashim, Faris ; Macmurdo, Colleen.
Pediatric Nephrology.  35 (2020)  11 - p. 2097-2098 , 2020
Link: https://doi.org/10.1007/..
 
?
10

Novel Pathogenic Variant in TGFBR2 Confirmed by Molecular M..:

Zimmermann, Michael T. ; Urrutia, Raul A. ; Blackburn, Patrick R....
Case Reports in Genetics.  2017 (2017)  - p. 1-4 , 2017
Link: https://doi.org/10.1155/..
 
1-10