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Pawel Stankiewicz

Showing results (131-140 of 140) with videos related to

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Cell|February 24, 2018
A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and SeizuresVincenzo A Gennarino, Elizabeth E Palmer, Laura M McDonell, et al.
Nature Genetics|November 26, 2008
Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalitiesNicola Brunetti-Pierri, Jonathan S Berg, Fernando Scaglia, et al.
American Journal of Human Genetics|April 3, 2021
Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorderXenia Latypova, Marie Vincent, Alice Mollé, et al.
American Journal of Medical Genetics. Part A|February 1, 2021
Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomaliesKevin E Glinton, Anna C E Hurst, Kevin M Bowling, et al.
Genome Medicine|October 25, 2025
Whole-genome sequencing reveals individual and cohort level insights into chromosome 9p syndromesYingxi Wang, Eleanor I Sams, Rachel Slaugh, et al.
Medrxiv : the Preprint Server for Health Sciences|April 8, 2025
Whole-Genome Sequencing Reveals Individual and Cohort Level Insights into Chromosome 9p SyndromesYingxi Wang, Eleanor I Sams, Rachel Slaugh, et al.
Nature Communications|October 17, 2019
Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disordersHui Guo, Elisa Bettella, Paul C Marcogliese, et al.
American Journal of Human Genetics|July 2, 2013
TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensitiesWojciech Wiszniewski, Jill V Hunter, Neil A Hanchard, et al.
Nature|April 21, 2006
DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineageMichael C Zody, Manuel Garber, David J Adams, et al.
Human Mutation|March 19, 2013
Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domainPartha Sen, Yaping Yang, Colby Navarro, et al.
Pageof 14

Showing results (131-140 of 140) with videos related to

Sort By:
Pageof 14
You have reached the last page of results.This site can display upto 140 results.
Cell|February 24, 2018
A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and SeizuresVincenzo A Gennarino, Elizabeth E Palmer, Laura M McDonell, et al.
Nature Genetics|November 26, 2008
Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalitiesNicola Brunetti-Pierri, Jonathan S Berg, Fernando Scaglia, et al.
American Journal of Human Genetics|April 3, 2021
Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorderXenia Latypova, Marie Vincent, Alice Mollé, et al.
American Journal of Medical Genetics. Part A|February 1, 2021
Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomaliesKevin E Glinton, Anna C E Hurst, Kevin M Bowling, et al.
Genome Medicine|October 25, 2025
Whole-genome sequencing reveals individual and cohort level insights into chromosome 9p syndromesYingxi Wang, Eleanor I Sams, Rachel Slaugh, et al.
Medrxiv : the Preprint Server for Health Sciences|April 8, 2025
Whole-Genome Sequencing Reveals Individual and Cohort Level Insights into Chromosome 9p SyndromesYingxi Wang, Eleanor I Sams, Rachel Slaugh, et al.
Nature Communications|October 17, 2019
Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disordersHui Guo, Elisa Bettella, Paul C Marcogliese, et al.
American Journal of Human Genetics|July 2, 2013
TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensitiesWojciech Wiszniewski, Jill V Hunter, Neil A Hanchard, et al.
Nature|April 21, 2006
DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineageMichael C Zody, Manuel Garber, David J Adams, et al.
Human Mutation|March 19, 2013
Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domainPartha Sen, Yaping Yang, Colby Navarro, et al.
Pageof 14