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Felicitas Lacbawan

Showing results (11-20 of 24) with videos related to

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International Journal of Pediatric Endocrinology|October 15, 2011
Unique phenotype in a patient with CHARGE syndromeShobhit Jain, Hyung-Goo Kim, Felicitas Lacbawan, et al.
American Journal of Medical Genetics. Part A|March 19, 2011
Holoprosencephaly in a family segregating novel variants in ZIC2 and GLI2Nilrat Wannasilp, Benjamin D Solomon, Nicole Warren-Mora, et al.
Human Mutation|January 30, 2009
The full spectrum of holoprosencephaly-associated mutations within the ZIC2 gene in humans predicts loss-of-function as the predominant disease mechanismErich Roessler, Felicitas Lacbawan, Christèle Dubourg, et al.
Molecular Genetics and Metabolism|September 12, 2006
Functional analysis of mutations in TGIF associated with holoprosencephalyKenia B El-Jaick, Shannon E Powers, Laurent Bartholin, et al.
American Journal of Human Genetics|June 10, 2008
Reduced NODAL signaling strength via mutation of several pathway members including FOXH1 is linked to human heart defects and holoprosencephalyErich Roessler, Maia V Ouspenskaia, Jayaprakash D Karkera, et al.
Scientific Reports|February 9, 2022
Development and validation of a high throughput SARS-CoV-2 whole genome sequencing workflow in a clinical laboratorySun Hee Rosenthal, Anna Gerasimova, Rolando Ruiz-Vega, et al.
Plos One|April 28, 2021
Analytical validation and performance characteristics of a 48-gene next-generation sequencing panel for detecting potentially actionable genomic alterations in myeloid neoplasmsSun Hee Rosenthal, Anna Gerasimova, Charles Ma, et al.
Human Mutation|July 16, 2009
The mutational spectrum of holoprosencephaly-associated changes within the SHH gene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesisErich Roessler, Kenia B El-Jaick, Christèle Dubourg, et al.
Biomed Research International|February 25, 2020
Development and Validation of a 34-Gene Inherited Cancer Predisposition Panel Using Next-Generation SequencingSun Hee Rosenthal, Weimin Sun, Ke Zhang, et al.
Lancet (London, England)|July 10, 2002
Association between conformational mutations in neuroserpin and onset and severity of dementiaRichard L Davis, Antony E Shrimpton, Robin W Carrell, et al.
Pageof 3

Showing results (11-20 of 24) with videos related to

Sort By:
Pageof 3
International Journal of Pediatric Endocrinology|October 15, 2011
Unique phenotype in a patient with CHARGE syndromeShobhit Jain, Hyung-Goo Kim, Felicitas Lacbawan, et al.
American Journal of Medical Genetics. Part A|March 19, 2011
Holoprosencephaly in a family segregating novel variants in ZIC2 and GLI2Nilrat Wannasilp, Benjamin D Solomon, Nicole Warren-Mora, et al.
Human Mutation|January 30, 2009
The full spectrum of holoprosencephaly-associated mutations within the ZIC2 gene in humans predicts loss-of-function as the predominant disease mechanismErich Roessler, Felicitas Lacbawan, Christèle Dubourg, et al.
Molecular Genetics and Metabolism|September 12, 2006
Functional analysis of mutations in TGIF associated with holoprosencephalyKenia B El-Jaick, Shannon E Powers, Laurent Bartholin, et al.
American Journal of Human Genetics|June 10, 2008
Reduced NODAL signaling strength via mutation of several pathway members including FOXH1 is linked to human heart defects and holoprosencephalyErich Roessler, Maia V Ouspenskaia, Jayaprakash D Karkera, et al.
Scientific Reports|February 9, 2022
Development and validation of a high throughput SARS-CoV-2 whole genome sequencing workflow in a clinical laboratorySun Hee Rosenthal, Anna Gerasimova, Rolando Ruiz-Vega, et al.
Plos One|April 28, 2021
Analytical validation and performance characteristics of a 48-gene next-generation sequencing panel for detecting potentially actionable genomic alterations in myeloid neoplasmsSun Hee Rosenthal, Anna Gerasimova, Charles Ma, et al.
Human Mutation|July 16, 2009
The mutational spectrum of holoprosencephaly-associated changes within the SHH gene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesisErich Roessler, Kenia B El-Jaick, Christèle Dubourg, et al.
Biomed Research International|February 25, 2020
Development and Validation of a 34-Gene Inherited Cancer Predisposition Panel Using Next-Generation SequencingSun Hee Rosenthal, Weimin Sun, Ke Zhang, et al.
Lancet (London, England)|July 10, 2002
Association between conformational mutations in neuroserpin and onset and severity of dementiaRichard L Davis, Antony E Shrimpton, Robin W Carrell, et al.
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