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X
Samuels, ME
7  Ergebnisse:
Personensuche X
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1

46, XY gonadal dysgenesis: new SRY point mutation in two si..:

Stoppa‐Vaucher, S ; Ayabe, T ; Paquette, J...
Clinical Genetics.  82 (2012)  6 - p. 505-513 , 2012
Link: https://doi.org/10.1111/..
 
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2

Loss‐of‐function mutations in the Nav1.7 gene underlie cong..:

Goldberg, YP ; MacFarlane, J ; MacDonald, ML...
Clinical Genetics.  71 (2007)  4 - p. 311-319 , 2007
Link: https://doi.org/10.1111/..
 
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3

Genetic variants of frizzled-4 gene in familial exudative v..:

MacDonald, MLE ; Goldberg, YP ; MacFarlane, J...
Clinical Genetics.  67 (2005)  4 - p. 363-366 , 2005
Link: https://doi.org/10.1111/..
 
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4

A homozygous HAMP mutation in a multiply consanguineous fam..:

Delatycki, MB ; Allen, KJ ; Gow, P...
Clinical Genetics.  65 (2004)  5 - p. 378-383 , 2004
Link: https://doi.org/10.1111/..
 
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5

Identification of a common variant in the lipoprotein lipas..:

Samuels, ME ; Forbey, KC ; Reid, JE...
Clinical Genetics.  59 (2001)  2 - p. 88-98 , 2001
Link: https://doi.org/10.1034/..
 
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6

Updated International Tuberous Sclerosis Complex Diagnostic..:

Northrup, H ; Aronow, ME ; Bebin, EM...
https://discovery.ucl.ac.uk/id/eprint/10133454/1/1-s2.0-S088789942100151X-main.pdf.  , 2021
Link: https://discovery.ucl.ac..
 
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7

Efficacy of single dose primaquine with artemisinin combina..:

Stepniewska, K ; Humphreys, GS ; Gonçalves, BP...
doi:10.1093/infdis/jiaa498.  , 2020
Link: https://doi.org/10.1093/..
 
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