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Rodan, Lance
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1

Gain and loss of function variants in EZH1 disrupt neurogen..:

Gracia-Diaz, Carolina ; Zhou, Yijing ; Yang, Qian...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10336078/.  , 2023
Link: http://www.ncbi.nlm.nih...
 
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2

Biallelic PRMT7 pathogenic variants are associated with a r..:

Cali, Elisa ; Suri, Mohnish ; Scala, Marcello...
https://eprints.soton.ac.uk/472172/1/Manuscript_revised_cleanversion.docx.  , 2023
Link: https://eprints.soton.ac..
 
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3

Biallelic PRMT7 pathogenic variants are associated with a r..:

Cali, Elisa ; Suri, Mohnish ; Scala, Marcello...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10620944/.  , 2023
Link: http://www.ncbi.nlm.nih...
 
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4

Gain and loss of function variants in EZH1 disrupt neurogen..:

Gracia-Diaz, Carolina ; Zhou, Yijing ; Yang, Qian...
https://discovery.ucl.ac.uk/id/eprint/10173395/1/Efthymiou_s41467-023-39645-5.pdf.  , 2023
Link: https://discovery.ucl.ac..
 
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5

Gain and loss of function variants in EZH1 disrupt neurogen..:

Gracia-Diaz, Carolina ; Zhou, Yijing ; Yang, Qian...
https://boris.unibe.ch/184706/.  , 2023
Link: https://boris.unibe.ch/1..
 
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6

Bi-allelic loss-of-function variants in TMEM147 cause moder..:

Thomas, Quentin ; Motta, Marialetizia ; Gautier, Thierry...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ajhg.2022.08.008.  , 2022
Link: https://univ-rennes.hal...
 
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7

Bi-allelic loss-of-function variants in TMEM147 cause moder..:

Thomas, Quentin ; Motta, Marialetizia ; Gautier, Thierry...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ajhg.2022.08.008.  , 2022
Link: https://univ-rennes.hal...
 
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8

Mendelian etiologies identified with whole exome sequencing..:

Chopra, Maya ; Gable, Dustin L ; Love‐Nichols, Jamie...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8862420/.  , 2022
Link: http://www.ncbi.nlm.nih...
 
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9

Bi-allelic loss-of-function variants in TMEM147 cause moder..:

Thomas, Quentin ; Motta, Marialetizia ; Gautier, Thierry...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ajhg.2022.08.008.  , 2022
Link: https://univ-rennes.hal...
 
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10

Bi-allelic loss-of-function variants in TMEM147 cause moder..:

Thomas, Quentin ; Motta, Marialetizia ; Gautier, Thierry...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ajhg.2022.08.008.  , 2022
Link: https://univ-rennes.hal...
 
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11

SEMA6B variants cause intellectual disability and alter den..:

Cordovado, Amélie ; Schaettin, Martina ; Jeanne, Mederic...
info:eu-repo/semantics/altIdentifier/doi/10.1093/hmg/ddac114.  , 2022
Link: https://hal.science/hal-..
 
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12

Bi-allelic loss-of-function variants in TMEM147 cause moder..:

Thomas, Quentin ; Motta, Marialetizia ; Gautier, Thierry...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ajhg.2022.08.008.  , 2022
Link: https://univ-rennes.hal...
 
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13

Bi-allelic loss-of-function variants in TMEM147 cause moder..:

Thomas, Quentin ; Motta, Marialetizia ; Gautier, Thierry...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ajhg.2022.08.008.  , 2022
Link: https://univ-rennes.hal...
 
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14

SEMA6B variants cause intellectual disability and alter den..:

Cordovado, Amélie ; Schaettin, Martina ; Jeanne, Mederic...
info:eu-repo/semantics/altIdentifier/doi/10.1093/hmg/ddac114.  , 2022
Link: https://hal.science/hal-..
 
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15

Bi-allelic loss-of-function variants in TMEM147 cause moder..:

Thomas, Quentin ; Motta, Marialetizia ; Gautier, Thierry...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ajhg.2022.08.008.  , 2022
Link: https://univ-rennes.hal...
 
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