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Hiatt, Susan M
~ 100  Ergebnisse:
OpenAccess-Volltexte X
Personensuche X
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1

Parents' Perspectives on the Utility of Genomic Sequencing ..:

Lemke, Amy A ; Thompson, Michelle L ; Gimpel, Emily C...
https://digitalscholar.lsuhsc.edu/som_facpubs/1380.  , 2023
Link: https://digitalscholar.l..
 
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2

Deleterious, protein-altering variants in the transcription..:

Hiatt, Susan M ; Trajkova, Slavica ; Sebastiano, Matteo Rossi...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9943726/.  , 2023
Link: http://www.ncbi.nlm.nih...
 
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3

Missense variants in RPH3A cause defects in excitatory syna..:

Pavinato, Lisa ; Stanic, Jennifer ; Barzasi, Marta...
https://discovery.ucl.ac.uk/id/eprint/10173344/1/Sisodiya_Missence_Variants_1-s2.0-S1098360023009358-main.pdf.  , 2023
Link: https://discovery.ucl.ac..
 
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4

The Therapeutic Odyssey: Positioning genomic sequencing in ..:

Childerhose, Janet E ; Rich, Carla A ; East, Kelly M...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9922533/.  , 2021
Link: http://www.ncbi.nlm.nih...
 
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5

De novo TBR1 variants cause a neurocognitive phenotype with..:

Nambot, Sophie ; Faivre, Laurence ; Mirzaa, Ghayda...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7253452/.  , 2020
Link: http://www.ncbi.nlm.nih...
 
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6

ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorde:

Carapito, Raphael ; Ivanova, Ekaterina L ; Morlon, Aurore...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7042478/.  , 2020
Link: http://www.ncbi.nlm.nih...
 
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7

De novo TBR1 variants cause a neurocognitive phenotype with..:

Nambot, Sophie ; Faivre, Laurence ; Mirzaa, Ghayda...
https://research.rug.nl/en/publications/820dd60c-80e4-4740-8566-3e1639f39336.  , 2020
Link: https://hdl.handle.net/1..
 
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8

ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorde:

Carapito, Raphael ; Ivanova, Ekaterina L ; Morlon, Aurore...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ajhg.2018.12.007.  , 2019
Link: https://hal.science/hal-..
 
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9

ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorde:

Carapito, Raphael ; Ivanova, Ekaterina L ; Morlon, Aurore...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ajhg.2018.12.007.  , 2019
Link: https://hal.archives-ouv..
 
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10

Pathogenic WDFY3 variants cause neurodevelopmental disorder..:

Le Duc, Diana ; Giulivi, Cecilia ; Hiatt, Susan M...
qt5n82c4vr.  , 2019
Link: https://escholarship.org..
 
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11

Deleterious Variation in BRSK2 Associates with a Neurodevel..:

Hiatt, Susan M ; Thompson, Michelle L ; Prokop, Jeremy W...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6451696/.  , 2019
Link: http://www.ncbi.nlm.nih...
 
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12

ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorde:

Carapito, Raphael ; Ivanova, Ekaterina L ; Morlon, Aurore...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ajhg.2018.12.007.  , 2019
Link: https://hal.science/hal-..
 
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13

ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorde:

Carapito, Raphael ; Ivanova, Ekaterina L ; Morlon, Aurore...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ajhg.2018.12.007.  , 2019
Link: https://hal.science/hal-..
 
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14

A YWHAZ Variant Associated With Cardiofaciocutaneous Syndro..:

Popov, Ivan K ; Hiatt, Susan M ; Whalen, Sandra...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6465419/.  , 2019
Link: http://www.ncbi.nlm.nih...
 
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15

Pathogenic WDFY3 variants cause neurodevelopmental disorder..:

Le Duc, Diana ; Giulivi, Cecilia ; Hiatt, Susan M...
qt8cc843ht.  , 2019
Link: https://escholarship.org..
 
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