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Nils Koelling

Showing results (11-20 of 16) with videos related to

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Human Molecular Genetics|May 9, 2019
A de novo substitution in BCL11B leads to loss of interaction with transcriptional complexes and craniosynostosisJacqueline A C Goos, Walter K Vogel, Hana Mlcochova, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 9, 2020
Correction: SMAD6 variants in craniosynostosis: genotype and phenotype evaluationEduardo Calpena, Araceli Cuellar, Krithi Bala, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 6, 2020
SMAD6 variants in craniosynostosis: genotype and phenotype evaluationEduardo Calpena, Araceli Cuellar, Krithi Bala, et al.
Nature Communications|February 15, 2023
Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutationMarie Bernkopf, Ummi B Abdullah, Stephen J Bush, 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.
The New England Journal of Medicine|November 10, 2021
100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report, Damian Smedley, Katherine R Smith, et al.
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Showing results (11-20 of 16) with videos related to

Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 16 results.
Human Molecular Genetics|May 9, 2019
A de novo substitution in BCL11B leads to loss of interaction with transcriptional complexes and craniosynostosisJacqueline A C Goos, Walter K Vogel, Hana Mlcochova, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 9, 2020
Correction: SMAD6 variants in craniosynostosis: genotype and phenotype evaluationEduardo Calpena, Araceli Cuellar, Krithi Bala, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 6, 2020
SMAD6 variants in craniosynostosis: genotype and phenotype evaluationEduardo Calpena, Araceli Cuellar, Krithi Bala, et al.
Nature Communications|February 15, 2023
Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutationMarie Bernkopf, Ummi B Abdullah, Stephen J Bush, 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.
The New England Journal of Medicine|November 10, 2021
100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report, Damian Smedley, Katherine R Smith, et al.
Pageof 2