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Littlejohn

Showing results (931-940 of 987) with videos related to

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Human Mutation|April 26, 2019
Mutation update for the SATB2 geneYuri A Zarate, Katherine A Bosanko, Aisling R Caffrey, et al.
American Journal of Human Genetics|February 1, 2023
Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephalyMargaux Serey-Gaut, Marisol Cortes, Periklis Makrythanasis, et al.
American Journal of Human Genetics|October 1, 2025
A cardiovascular, craniofacial, and neurodevelopmental disorder caused by loss-of-function variants in the eIF3 complex component genes EIF3A and EIF3BEsra Erkut, Cherith Somerville, Marci L B Schwartz, et al.
Genome Medicine|March 27, 2019
Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndromeFrancesco Vetrini, Shane McKee, Jill A Rosenfeld, et al.
Genome Medicine|March 2, 2019
De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndromeFrancesco Vetrini, Shane McKee, Jill A Rosenfeld, et al.
Physical Review. C|December 18, 2020
Nonfuel Antineutrino Contributions in the High Flux Isotope ReactorA B Balantekin, H R Band, C D Bass, et al.
Physical Review Letters|July 28, 2023
Final Measurement of the ^{235}U Antineutrino Energy Spectrum with the PROSPECT-I Detector at HFIRM Andriamirado, A B Balantekin, C D Bass, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 18, 2022
Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalitiesElisa Cali, Mohnish Suri, Marcello Scala, et al.
Physical Review Letters|July 27, 2019
Measurement of the Antineutrino Spectrum from ^{235}U Fission at HFIR with PROSPECTJ Ashenfelter, A B Balantekin, H R Band, et al.
American Journal of Human Genetics|June 5, 2018
De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental DisorderMargot R F Reijnders, Kerry A Miller, Mohsan Alvi, et al.
Pageof 99

Showing results (931-940 of 987) with videos related to

Sort By:
Pageof 99
Human Mutation|April 26, 2019
Mutation update for the SATB2 geneYuri A Zarate, Katherine A Bosanko, Aisling R Caffrey, et al.
American Journal of Human Genetics|February 1, 2023
Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephalyMargaux Serey-Gaut, Marisol Cortes, Periklis Makrythanasis, et al.
American Journal of Human Genetics|October 1, 2025
A cardiovascular, craniofacial, and neurodevelopmental disorder caused by loss-of-function variants in the eIF3 complex component genes EIF3A and EIF3BEsra Erkut, Cherith Somerville, Marci L B Schwartz, et al.
Genome Medicine|March 27, 2019
Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndromeFrancesco Vetrini, Shane McKee, Jill A Rosenfeld, et al.
Genome Medicine|March 2, 2019
De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndromeFrancesco Vetrini, Shane McKee, Jill A Rosenfeld, et al.
Physical Review. C|December 18, 2020
Nonfuel Antineutrino Contributions in the High Flux Isotope ReactorA B Balantekin, H R Band, C D Bass, et al.
Physical Review Letters|July 28, 2023
Final Measurement of the ^{235}U Antineutrino Energy Spectrum with the PROSPECT-I Detector at HFIRM Andriamirado, A B Balantekin, C D Bass, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 18, 2022
Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalitiesElisa Cali, Mohnish Suri, Marcello Scala, et al.
Physical Review Letters|July 27, 2019
Measurement of the Antineutrino Spectrum from ^{235}U Fission at HFIR with PROSPECTJ Ashenfelter, A B Balantekin, H R Band, et al.
American Journal of Human Genetics|June 5, 2018
De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental DisorderMargot R F Reijnders, Kerry A Miller, Mohsan Alvi, et al.
Pageof 99