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Isabel Filges

Showing results (21-30 of 62) with videos related to

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Prenatal Diagnosis|February 26, 2011
aCGH on chorionic villi mirrors the complexity of fetoplacental mosaicism in prenatal diagnosisIsabel Filges, Anjeung Kang, Vanessa Klug, et al.
Molecular Cytogenetics|September 18, 2012
Array comparative genomic hybridization in prenatal diagnosis of first trimester pregnancies at high risk for chromosomal anomaliesIsabel Filges, Anjeung Kang, Vanessa Klug, et al.
Human Mutation|February 22, 2002
A modified multiplex PCR assay for detection of large deletions in MSH2 and MLH1Yaping Wang, Waltraut Friedl, Marlies Sengteller, et al.
BMC Pediatrics|September 7, 2021
The full spectrum of ethical issues in pediatric genome-wide sequencing: a systematic qualitative reviewJohanna Eichinger, Bernice S Elger, Insa Koné, et al.
Ultraschall in Der Medizin (Stuttgart, Germany : 1980)|April 8, 2020
Dual independent genetic etiologies in a lethal complex malformation phenotypeIsabel Filges, Agnes Genewein, Peter Weber, et al.
American Journal of Medical Genetics. Part A|April 2, 2010
Interstitial deletion 1q42 in a patient with agenesis of corpus callosum: Phenotype-genotype comparison to the 1q41q42 microdeletion suggests a contiguous 1q4 syndromeIsabel Filges, Benno Röthlisberger, Nemya Boesch, et al.
Fertility and Sterility|August 27, 2011
A novel missense mutation in the high mobility group domain of SRY drastically reduces its DNA-binding capacity and causes paternally transmitted 46,XY complete gonadal dysgenesisIsabel Filges, Christophe Kunz, Peter Miny, et al.
American Journal of Medical Genetics. Part A|January 24, 2009
Familial 14.5 Mb interstitial deletion 13q21.1-13q21.33: clinical and array-CGH study of a benign phenotype in a three-generation familyIsabel Filges, Benno Röthlisberger, Christoph Noppen, et al.
American Journal of Medical Genetics. Part A|January 25, 2014
Scoliosis and vertebral anomalies: additional abnormal phenotypes associated with chromosome 16p11.2 rearrangementHussam Al-Kateb, Geetika Khanna, Isabel Filges, et al.
Orphanet Journal of Rare Diseases|July 27, 2025
Arthrogryposis Multiplex Congenita (AMC) and counselling before and during pregnancy: a questionnaire studyArda Arduç, Julia Slootbeek, Johanna I P de Vries, et al.
Pageof 7

Showing results (21-30 of 62) with videos related to

Sort By:
Pageof 7
Prenatal Diagnosis|February 26, 2011
aCGH on chorionic villi mirrors the complexity of fetoplacental mosaicism in prenatal diagnosisIsabel Filges, Anjeung Kang, Vanessa Klug, et al.
Molecular Cytogenetics|September 18, 2012
Array comparative genomic hybridization in prenatal diagnosis of first trimester pregnancies at high risk for chromosomal anomaliesIsabel Filges, Anjeung Kang, Vanessa Klug, et al.
Human Mutation|February 22, 2002
A modified multiplex PCR assay for detection of large deletions in MSH2 and MLH1Yaping Wang, Waltraut Friedl, Marlies Sengteller, et al.
BMC Pediatrics|September 7, 2021
The full spectrum of ethical issues in pediatric genome-wide sequencing: a systematic qualitative reviewJohanna Eichinger, Bernice S Elger, Insa Koné, et al.
Ultraschall in Der Medizin (Stuttgart, Germany : 1980)|April 8, 2020
Dual independent genetic etiologies in a lethal complex malformation phenotypeIsabel Filges, Agnes Genewein, Peter Weber, et al.
American Journal of Medical Genetics. Part A|April 2, 2010
Interstitial deletion 1q42 in a patient with agenesis of corpus callosum: Phenotype-genotype comparison to the 1q41q42 microdeletion suggests a contiguous 1q4 syndromeIsabel Filges, Benno Röthlisberger, Nemya Boesch, et al.
Fertility and Sterility|August 27, 2011
A novel missense mutation in the high mobility group domain of SRY drastically reduces its DNA-binding capacity and causes paternally transmitted 46,XY complete gonadal dysgenesisIsabel Filges, Christophe Kunz, Peter Miny, et al.
American Journal of Medical Genetics. Part A|January 24, 2009
Familial 14.5 Mb interstitial deletion 13q21.1-13q21.33: clinical and array-CGH study of a benign phenotype in a three-generation familyIsabel Filges, Benno Röthlisberger, Christoph Noppen, et al.
American Journal of Medical Genetics. Part A|January 25, 2014
Scoliosis and vertebral anomalies: additional abnormal phenotypes associated with chromosome 16p11.2 rearrangementHussam Al-Kateb, Geetika Khanna, Isabel Filges, et al.
Orphanet Journal of Rare Diseases|July 27, 2025
Arthrogryposis Multiplex Congenita (AMC) and counselling before and during pregnancy: a questionnaire studyArda Arduç, Julia Slootbeek, Johanna I P de Vries, et al.
Pageof 7