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M Holtz

Showing results (101-110 of 104) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 18, 2022
Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signalingAlexander M Holtz, Rachel VanCoillie, Elizabeth A Vansickle, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 14, 2024
Upregulation versus loss of function of NTRK2 in 44 affected individuals leads to 2 distinct neurodevelopmental disordersEva Berger, Robin-Tobias Jauss, Judith D Ranells, et al.
American Journal of Human Genetics|February 7, 2024
Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestaltJames L Shepherdson, Katie Hutchison, Dilan Wellalage Don, et al.
Nature Communications|July 11, 2023
Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disordersCarolina Gracia-Diaz, Yijing Zhou, Qian Yang, et al.
Pageof 11

Showing results (101-110 of 104) with videos related to

Sort By:
Pageof 11
You have reached the last page of results.This site can display upto 104 results.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 18, 2022
Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signalingAlexander M Holtz, Rachel VanCoillie, Elizabeth A Vansickle, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 14, 2024
Upregulation versus loss of function of NTRK2 in 44 affected individuals leads to 2 distinct neurodevelopmental disordersEva Berger, Robin-Tobias Jauss, Judith D Ranells, et al.
American Journal of Human Genetics|February 7, 2024
Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestaltJames L Shepherdson, Katie Hutchison, Dilan Wellalage Don, et al.
Nature Communications|July 11, 2023
Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disordersCarolina Gracia-Diaz, Yijing Zhou, Qian Yang, et al.
Pageof 11