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X
Cox, Eleina
22  Ergebnisse:
Personensuche X
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1

Connective Tissue Disorders and Fragile X Molecular Status ..:

Butler, Merlin G. ; Hossain, Waheeda A. ; Steinle, Jacob...
International Journal of Molecular Sciences.  23 (2022)  16 - p. 9090 , 2022
Link: https://doi.org/10.3390/..
 
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2

Prenatal presentation and diagnosis ofBaraitser‐Wintersyndr..:

Zhang, Kermit ; Cox, Eleina ; Strom, Samuel...
American Journal of Medical Genetics Part A.  182 (2020)  9 - p. 2124-2128 , 2020
Link: https://doi.org/10.1002/..
 
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3

Compound heterozygous loss of function variants in MYL9 in ..:

Kandler, Justin L. ; Sklirou, Evgenia ; Woerner, Audrey...
Molecular Genetics & Genomic Medicine.  8 (2020)  11 - p. , 2020
Link: https://doi.org/10.1002/..
 
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4

Connective Tissue Disorders and Fragile X Molecular Status ..:

Butler, Merlin G ; Hossain, Waheeda A ; Steinle, Jacob...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9408984/.  , 2022
Link: http://www.ncbi.nlm.nih...
 
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5

Connective Tissue Disorders and Fragile X Molecular Status ..:

Merlin G. Butler ; Waheeda A. Hossain ; Jacob Steinle...
Molecular Genetics and Genomics.  , 2022
Link: https://doi.org/10.3390/..
 
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6

Connective Tissue Disorders and Fragile X Molecular Status ..:

Merlin G. Butler ; Waheeda A. Hossain ; Jacob Steinle...
https://www.mdpi.com/1422-0067/23/16/9090.  , 2022
Link: https://doi.org/10.3390/..
 
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7

Compound heterozygous loss of function variants in MYL9 in ..:

Justin L. Kandler ; Evgenia Sklirou ; Audrey Woerner...
https://doi.org/10.1002/mgg3.1516.  , 2020
Link: https://doi.org/10.1002/..
 
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8

Digenic inheritance involving a muscle-specific protein kin..:

Töpf, Ana ; Cox, Dan ; Zaharieva, Irina T....
Nature Genetics.  56 (2024)  3 - p. 395-407 , 2024
Link: https://doi.org/10.1038/..
 
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9

Alternative genomic diagnoses for individuals with a clinic..:

Dyment, David A. ; O'Donnell‐Luria, Anne ; Agrawal, Pankaj B....
American Journal of Medical Genetics Part A.  185 (2020)  1 - p. 119-133 , 2020
Link: https://doi.org/10.1002/..
 
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10

Missense variants in DPYSL5 cause a neurodevelopmental diso..:

Jeanne, Médéric ; Demory, Hélène ; Moutal, Aubin...
qt9t75z0zj.  , 2021
Link: https://escholarship.org..
 
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11

Missense variants in DPYSL5 cause a neurodevelopmental diso..:

Jeanne, Médéric ; Demory, Hélène ; Moutal, Aubin...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ajhg.2021.04.004.  , 2021
Link: https://hal.science/hal-..
 
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12

Missense variants in DPYSL5 cause a neurodevelopmental diso..:

Jeanne, Médéric ; Demory, Hélène ; Moutal, Aubin...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ajhg.2021.04.004.  , 2021
Link: https://hal.science/hal-..
 
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13

Missense variants in DPYSL5 cause a neurodevelopmental diso..:

Jeanne, Médéric ; Demory, Hélène ; Moutal, Aubin...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ajhg.2021.04.004.  , 2021
Link: https://hal.archives-ouv..
 
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14

Missense variants in DPYSL5 cause a neurodevelopmental diso..:

Jeanne, Médéric ; Demory, Hélène ; Moutal, Aubin...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ajhg.2021.04.004.  , 2021
Link: https://hal.science/hal-..
 
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15

Missense variants in DPYSL5 cause a neurodevelopmental diso..:

Jeanne, Médéric ; Demory, Hélène ; Moutal, Aubin...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ajhg.2021.04.004.  , 2021
Link: https://hal.science/hal-..
 
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