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Clinical genetics

Showing results (311-320 of 7,173) with videos related to

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Clinical Genetics|December 19, 2013
Dural ectasia in Loeys-Dietz syndrome: comprehensive study of 30 patients with a TGFBR1 or TGFBR2 mutationS Sheikhzadeh, L Brockstaedt, C R Habermann, et al.
Clinical Genetics|January 6, 2022
A new phenotype of syndromic retinitis pigmentosa with myopathy is caused by mutations in retinol dehydrogenase 11Yi-Dan Liu, Shu-Shu Huang, Mei Li, et al.
Clinical Genetics|January 6, 2022
Bi-allelic null variant in matrix metalloproteinase-15, causes congenital cardiac defect, cholestasis jaundice, and failure to thriveHanadi A Abdelrahman, Nadia Akawi, Aisha M Al-Shamsi, et al.
Clinical Genetics|March 18, 2021
A novel bi-allelic loss-of-function mutation in STIM1 expands the phenotype of STIM1-related diseasesAlexandra Salvi, Cristina Skrypnyk, Nathalie Da Silva, et al.
Clinical Genetics|September 4, 2022
A cross-sectional study on fatigue, anxiety, and symptoms of depression and their relation with medical status in adult patients with Marfan syndrome. Psychological consequences in Marfan syndromeMitzi M van Andel, Kim Graaumans, Maarten Groenink, et al.
Clinical Genetics|December 27, 2021
Pathogenic "germline" variants associated with myeloproliferative disorders in apparently normal individuals: Inherited or acquired genetic alterations?Reiner A Veitia, Hideki Innan
Clinical Genetics|November 9, 2021
Expanding the spectrum of syndromic PPP2R3C-related XY gonadal dysgenesis to XX gonadal dysgenesisUmut Altunoglu, Esra Börklü, Anju Shukla, et al.
Clinical Genetics|March 1, 1986
Alpha 1-antitrypsin deficiency and the flaccid lung syndrome. The heterozygote controversyE C Klasen, I Biemond, C D Laros
Clinical Genetics|January 13, 2022
Genetic risk of hyperuricemia in hypertensive patients associated with antihypertensive drug therapy: A longitudinal studyYu Chen, Yunyun Yang, Yixuan Zhong, et al.
Clinical Genetics|December 1, 1986
DNA polymorphism at the apolipoprotein B locus is associated with lipoprotein levelK Berg
Pageof 718

Showing results (311-320 of 7,173) with videos related to

Sort By:
Pageof 718
Clinical Genetics|December 19, 2013
Dural ectasia in Loeys-Dietz syndrome: comprehensive study of 30 patients with a TGFBR1 or TGFBR2 mutationS Sheikhzadeh, L Brockstaedt, C R Habermann, et al.
Clinical Genetics|January 6, 2022
A new phenotype of syndromic retinitis pigmentosa with myopathy is caused by mutations in retinol dehydrogenase 11Yi-Dan Liu, Shu-Shu Huang, Mei Li, et al.
Clinical Genetics|January 6, 2022
Bi-allelic null variant in matrix metalloproteinase-15, causes congenital cardiac defect, cholestasis jaundice, and failure to thriveHanadi A Abdelrahman, Nadia Akawi, Aisha M Al-Shamsi, et al.
Clinical Genetics|March 18, 2021
A novel bi-allelic loss-of-function mutation in STIM1 expands the phenotype of STIM1-related diseasesAlexandra Salvi, Cristina Skrypnyk, Nathalie Da Silva, et al.
Clinical Genetics|September 4, 2022
A cross-sectional study on fatigue, anxiety, and symptoms of depression and their relation with medical status in adult patients with Marfan syndrome. Psychological consequences in Marfan syndromeMitzi M van Andel, Kim Graaumans, Maarten Groenink, et al.
Clinical Genetics|December 27, 2021
Pathogenic "germline" variants associated with myeloproliferative disorders in apparently normal individuals: Inherited or acquired genetic alterations?Reiner A Veitia, Hideki Innan
Clinical Genetics|November 9, 2021
Expanding the spectrum of syndromic PPP2R3C-related XY gonadal dysgenesis to XX gonadal dysgenesisUmut Altunoglu, Esra Börklü, Anju Shukla, et al.
Clinical Genetics|March 1, 1986
Alpha 1-antitrypsin deficiency and the flaccid lung syndrome. The heterozygote controversyE C Klasen, I Biemond, C D Laros
Clinical Genetics|January 13, 2022
Genetic risk of hyperuricemia in hypertensive patients associated with antihypertensive drug therapy: A longitudinal studyYu Chen, Yunyun Yang, Yixuan Zhong, et al.
Clinical Genetics|December 1, 1986
DNA polymorphism at the apolipoprotein B locus is associated with lipoprotein levelK Berg
Pageof 718