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Skraban, Cara
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1

Molecular diagnosis and novel genes and phenotypes in a ped..:

Strong, Alanna ; Behr, Meckenzie ; Lott, Carina...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9849333/.  , 2023
Link: http://www.ncbi.nlm.nih...
 
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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

Influence of Genetic Information on Neonatologists' Decisio..:

Callahan, Katharine Press ; Flibotte, John ; Skraban, Cara...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8892772/.  , 2022
Link: http://www.ncbi.nlm.nih...
 
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4

Expanding the phenotypic spectrum of ARCN1-related syndrome:

Ritter, Alyssa L ; Gold, Jessica ; Hayashi, Hiroshi...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9923403/.  , 2022
Link: http://www.ncbi.nlm.nih...
 
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5

Expanding the phenotypic spectrum of ARCN1-related syndrome:

Ritter, Alyssa L ; Gold, Jessica ; Hayashi, Hiroshi...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.gim.2022.02.005.  , 2022
Link: https://hal.science/hal-..
 
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6

How Neonatologists Use Genetic Testing: Findings from a nat..:

Callahan, Katharine Press ; Flibotte, John ; Skraban, Cara...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8825701/.  , 2022
Link: http://www.ncbi.nlm.nih...
 
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7

Genetics etiologies and genotype phenotype correlations in ..:

Liu, Mandi ; Smith, Christopher L ; Biko, David M...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9436962/.  , 2022
Link: http://www.ncbi.nlm.nih...
 
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8

Expanding the phenotypic spectrum of Mendelian connective t..:

Strong, Alanna ; Skraban, Cara ; Meyers, Kevin...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9888756/.  , 2021
Link: http://www.ncbi.nlm.nih...
 
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9

Palmoplantar keratoderma with deafness phenotypic variabili..:

Bedoukian, Emma C ; Rentas, Stefan ; Skraban, Cara...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8077155/.  , 2021
Link: http://www.ncbi.nlm.nih...
 
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10

Disruption of RFX family transcription factors causes autis..:

Harris, Holly K ; Nakayama, Tojo ; Lai, Jenny...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9472083/.  , 2021
Link: http://www.ncbi.nlm.nih...
 
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11

Expansion of the Genotypic and Phenotypic Spectrum of WASF1..:

Srivastava, Siddharth ; Macke, Erica ; Swanson, Lindsay...
info:eu-repo/semantics/altIdentifier/doi/10.3390/brainsci11070931.  , 2021
Link: https://amu.hal.science/..
 
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12

Expansion of the Genotypic and Phenotypic Spectrum of WASF1..:

Srivastava, Siddharth ; Macke, Erica ; Swanson, Lindsay...
info:eu-repo/semantics/altIdentifier/doi/10.3390/brainsci11070931.  , 2021
Link: https://amu.hal.science/..
 
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13

Phenotypic expansion of CACNA1C-associated disorders to inc..:

Rodan, Lance ; Spillmann, Rebecca ; Kurata, Harley...
info:eu-repo/semantics/altIdentifier/doi/10.1038/s41436-021-01232-8.  , 2021
Link: https://univ-rennes.hal...
 
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14

Expansion of the Genotypic and Phenotypic Spectrum of WASF1..:

Srivastava, Siddharth ; Macke, Erica ; Swanson, Lindsay...
info:eu-repo/semantics/altIdentifier/doi/10.3390/brainsci11070931.  , 2021
Link: https://amu.hal.science/..
 
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15

Phenotypic expansion of CACNA1C-associated disorders to inc..:

Rodan, Lance ; Spillmann, Rebecca ; Kurata, Harley...
info:eu-repo/semantics/altIdentifier/doi/10.1038/s41436-021-01232-8.  , 2021
Link: https://univ-rennes.hal...
 
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