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Koenraad Devriendt

Showing results (41-50 of 190) with videos related to

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Human Mutation|January 24, 2006
Detection of heterozygous SALL1 deletions by quantitative real time PCR proves the contribution of a SALL1 dosage effect in the pathogenesis of Townes-Brocks syndromeWiktor Borozdin, Katharina Steinmann, Beate Albrecht, et al.
American Journal of Medical Genetics. Part A|January 9, 2020
Morphological characterization of newborns in Kinshasa, DR Congo: Common variants, minor, and major anomaliesGerrye Mubungu, Aimé Lumaka, Nono Mvuama, et al.
Pediatric Radiology|July 16, 2023
Fetal-onset Alexander disease with radiological-neuropathological correlationJohannes Devos, Koenraad Devriendt, Jute Richter, et al.
European Journal of Medical Genetics|February 12, 2023
Two siblings with Bosch-Boonstra-Schaaf optic atrophy syndrome due to parental gonadal mosaicismVictoria van Renterghem, Catheline Vilain, Koenraad Devriendt, et al.
European Journal of Medical Genetics|April 29, 2014
Exome sequencing identifies ZFPM2 as a cause of familial isolated congenital diaphragmatic hernia and possibly cardiovascular malformationsPaul D Brady, Jeroen Van Houdt, Bert Callewaert, et al.
American Journal of Medical Genetics. Part A|April 2, 2010
A second patient with Tsukahara syndrome: type A1 brachydactyly, short stature, hearing loss, microcephaly, mental retardation and ptosisGülen Eda Utine, Jeroen Breckpot, Bernard Thienpont, et al.
European Journal of Human Genetics : EJHG|April 10, 2008
A novel genomic disorder: a deletion of the SACS gene leading to spastic ataxia of Charlevoix-SaguenayJeroen Breckpot, Yoshihisa Takiyama, Bernard Thienpont, et al.
The Cleft Palate-Craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association|October 16, 2020
Dental and Craniofacial Characteristics in Patients With 14Q22.1-Q22.2 Deletion: A Case SeriesMarie Anne Roelandt, Koenraad Devriendt, Maria Cadenas de Llano-Pérula, et al.
European Journal of Medical Genetics|August 2, 2005
X-linked mental retardation, short stature, microcephaly and hypogonadism maps to Xp22.1-p21.3 in a Belgian familyHilde Van Esch, Ginevra Zanni, Maureen Holvoet, et al.
Fetal Diagnosis and Therapy|December 15, 2010
Recent developments in the genetic factors underlying congenital diaphragmatic herniaPaul D Brady, Kasemsri Srisupundit, Koenraad Devriendt, et al.
Pageof 19

Showing results (41-50 of 190) with videos related to

Sort By:
Pageof 19
Human Mutation|January 24, 2006
Detection of heterozygous SALL1 deletions by quantitative real time PCR proves the contribution of a SALL1 dosage effect in the pathogenesis of Townes-Brocks syndromeWiktor Borozdin, Katharina Steinmann, Beate Albrecht, et al.
American Journal of Medical Genetics. Part A|January 9, 2020
Morphological characterization of newborns in Kinshasa, DR Congo: Common variants, minor, and major anomaliesGerrye Mubungu, Aimé Lumaka, Nono Mvuama, et al.
Pediatric Radiology|July 16, 2023
Fetal-onset Alexander disease with radiological-neuropathological correlationJohannes Devos, Koenraad Devriendt, Jute Richter, et al.
European Journal of Medical Genetics|February 12, 2023
Two siblings with Bosch-Boonstra-Schaaf optic atrophy syndrome due to parental gonadal mosaicismVictoria van Renterghem, Catheline Vilain, Koenraad Devriendt, et al.
European Journal of Medical Genetics|April 29, 2014
Exome sequencing identifies ZFPM2 as a cause of familial isolated congenital diaphragmatic hernia and possibly cardiovascular malformationsPaul D Brady, Jeroen Van Houdt, Bert Callewaert, et al.
American Journal of Medical Genetics. Part A|April 2, 2010
A second patient with Tsukahara syndrome: type A1 brachydactyly, short stature, hearing loss, microcephaly, mental retardation and ptosisGülen Eda Utine, Jeroen Breckpot, Bernard Thienpont, et al.
European Journal of Human Genetics : EJHG|April 10, 2008
A novel genomic disorder: a deletion of the SACS gene leading to spastic ataxia of Charlevoix-SaguenayJeroen Breckpot, Yoshihisa Takiyama, Bernard Thienpont, et al.
The Cleft Palate-Craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association|October 16, 2020
Dental and Craniofacial Characteristics in Patients With 14Q22.1-Q22.2 Deletion: A Case SeriesMarie Anne Roelandt, Koenraad Devriendt, Maria Cadenas de Llano-Pérula, et al.
European Journal of Medical Genetics|August 2, 2005
X-linked mental retardation, short stature, microcephaly and hypogonadism maps to Xp22.1-p21.3 in a Belgian familyHilde Van Esch, Ginevra Zanni, Maureen Holvoet, et al.
Fetal Diagnosis and Therapy|December 15, 2010
Recent developments in the genetic factors underlying congenital diaphragmatic herniaPaul D Brady, Kasemsri Srisupundit, Koenraad Devriendt, et al.
Pageof 19