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Clinical genetics

Showing results (391-400 of 7,173) with videos related to

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Clinical Genetics|April 27, 2020
HNRNPH1-related syndromic intellectual disability: Seven additional cases suggestive of a distinct syndromic neurodevelopmental syndromeSara C Reichert, Rachel Li, Scott A Turner, et al.
Clinical Genetics|April 27, 2020
Deletions of specific exons of FHOD3 detected by next-generation sequencing are associated with hypertrophic cardiomyopathyJuan P Ochoa, Luis R Lopes, Marlene Perez-Barbeito, et al.
Clinical Genetics|April 27, 2020
Next-generation sequencing approaches and challenges in the diagnosis of developmental anomalies and intellectual disabilityAnge-Line Bruel, Antonio Vitobello, Frédéric Tran Mau-Them, et al.
Clinical Genetics|October 1, 1988
Terminal deletion of the short arm of chromosome 5C Baccichetti, E Lenzini, L Artifoni, et al.
Clinical Genetics|October 1, 1988
Trisomy (1q)(q42----qter): confirmation of a syndromeN L Chia, L R Bousfield, C C Poon, et al.
Clinical Genetics|December 1, 1988
Dominant inheritance of tooth malpositions and their association to hypodontiaE Svinhufvud, S Myllärniemi, R Norio
Clinical Genetics|June 20, 2020
Novel PCNT variants in MOPDII with attenuated growth restriction and pachygyriaStephanie Waich, Andreas R Janecke, Walther Parson, et al.
Clinical Genetics|June 25, 2020
A homozygous stop gain mutation in BOD1 gene in a Lebanese patient with syndromic intellectual disabilityNadine Hamdan, Cybel Mehawej, Ghada Sebaaly, et al.
Clinical Genetics|May 10, 2020
Genetic predisposition in type 2 diabetes: A promising approach toward a personalized management of diabetesMahmoud M Sirdah, N Scott Reading
Clinical Genetics|May 10, 2020
A homozygous variant in NDUFA8 is associated with developmental delay, microcephaly, and epilepsy due to mitochondrial complex I deficiencyYukiko Yatsuka, Yoshihito Kishita, Luke E Formosa, et al.
Pageof 718

Showing results (391-400 of 7,173) with videos related to

Sort By:
Pageof 718
Clinical Genetics|April 27, 2020
HNRNPH1-related syndromic intellectual disability: Seven additional cases suggestive of a distinct syndromic neurodevelopmental syndromeSara C Reichert, Rachel Li, Scott A Turner, et al.
Clinical Genetics|April 27, 2020
Deletions of specific exons of FHOD3 detected by next-generation sequencing are associated with hypertrophic cardiomyopathyJuan P Ochoa, Luis R Lopes, Marlene Perez-Barbeito, et al.
Clinical Genetics|April 27, 2020
Next-generation sequencing approaches and challenges in the diagnosis of developmental anomalies and intellectual disabilityAnge-Line Bruel, Antonio Vitobello, Frédéric Tran Mau-Them, et al.
Clinical Genetics|October 1, 1988
Terminal deletion of the short arm of chromosome 5C Baccichetti, E Lenzini, L Artifoni, et al.
Clinical Genetics|October 1, 1988
Trisomy (1q)(q42----qter): confirmation of a syndromeN L Chia, L R Bousfield, C C Poon, et al.
Clinical Genetics|December 1, 1988
Dominant inheritance of tooth malpositions and their association to hypodontiaE Svinhufvud, S Myllärniemi, R Norio
Clinical Genetics|June 20, 2020
Novel PCNT variants in MOPDII with attenuated growth restriction and pachygyriaStephanie Waich, Andreas R Janecke, Walther Parson, et al.
Clinical Genetics|June 25, 2020
A homozygous stop gain mutation in BOD1 gene in a Lebanese patient with syndromic intellectual disabilityNadine Hamdan, Cybel Mehawej, Ghada Sebaaly, et al.
Clinical Genetics|May 10, 2020
Genetic predisposition in type 2 diabetes: A promising approach toward a personalized management of diabetesMahmoud M Sirdah, N Scott Reading
Clinical Genetics|May 10, 2020
A homozygous variant in NDUFA8 is associated with developmental delay, microcephaly, and epilepsy due to mitochondrial complex I deficiencyYukiko Yatsuka, Yoshihito Kishita, Luke E Formosa, et al.
Pageof 718