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Clinical dysmorphology

Showing results (11-20 of 1,886) with videos related to

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Clinical Dysmorphology|February 23, 2016
Novel frameshift mutation in the CHD7 gene associated with CHARGE syndrome with preaxial polydactylyAndrea Surányi, Zoltán Maróti, Gyula Tálosi, et al.
Clinical Dysmorphology|November 22, 2012
A rare case of split hand/foot malformation with sensorineural hearing loss and Mondini dysplasiaAlper Gezdirici, Alper Yenigun, Erkan Koparir, et al.
Clinical Dysmorphology|February 11, 2016
Supernumerary nipples--a new finding in Williams syndromeRebecca S Moore, Patrick J Morrison
Clinical Dysmorphology|April 20, 2016
A novel de-novo WNT5A mutation in a Chinese patient with Robinow syndromeShiyi Xiong, David Chitayat, Xing Wei, et al.
Clinical Dysmorphology|April 9, 2016
Novel ADAMTSL2-mutations in a patient with geleophysic dysplasia type ILuisa Mackenroth, Andreas Rump, Peter Lorenz, et al.
Clinical Dysmorphology|January 14, 2025
Cerebellar infarction due to atlantoaxial subluxation in spondyloepimetaphyseal dysplasia-joint laxity type 1 caseNagehan Bilgeç, Burcu Çalişkan, Saliha Yavuz Eravci, et al.
Clinical Dysmorphology|December 6, 2024
Autosomal recessive renal tubular dysgenesis: antenatal ultrasound scanning and molecular investigationsYang Liu, Caiqun Luo, Xiaoxia Wu, et al.
Clinical Dysmorphology|January 14, 2020
A report of gonadal mosaicism in DHX30-related neurodevelopmental disorderLaura A Cross, Kirsty McWalter, Jennifer Keller-Ramey, et al.
Clinical Dysmorphology|December 12, 2022
The dysmorphic phenotype in vascular Ehlers Danlos syndromeJames R Lyness, Patrick J Morrison
Clinical Dysmorphology|December 12, 2022
3MC syndrome: molecular findings in previously reported and milder patients expand the natural history and phenotypic spectrumChloe Jade Ashton, Rahat Perveen, Glenda Beaman, et al.
Pageof 189

Showing results (11-20 of 1,886) with videos related to

Sort By:
Pageof 189
Clinical Dysmorphology|February 23, 2016
Novel frameshift mutation in the CHD7 gene associated with CHARGE syndrome with preaxial polydactylyAndrea Surányi, Zoltán Maróti, Gyula Tálosi, et al.
Clinical Dysmorphology|November 22, 2012
A rare case of split hand/foot malformation with sensorineural hearing loss and Mondini dysplasiaAlper Gezdirici, Alper Yenigun, Erkan Koparir, et al.
Clinical Dysmorphology|February 11, 2016
Supernumerary nipples--a new finding in Williams syndromeRebecca S Moore, Patrick J Morrison
Clinical Dysmorphology|April 20, 2016
A novel de-novo WNT5A mutation in a Chinese patient with Robinow syndromeShiyi Xiong, David Chitayat, Xing Wei, et al.
Clinical Dysmorphology|April 9, 2016
Novel ADAMTSL2-mutations in a patient with geleophysic dysplasia type ILuisa Mackenroth, Andreas Rump, Peter Lorenz, et al.
Clinical Dysmorphology|January 14, 2025
Cerebellar infarction due to atlantoaxial subluxation in spondyloepimetaphyseal dysplasia-joint laxity type 1 caseNagehan Bilgeç, Burcu Çalişkan, Saliha Yavuz Eravci, et al.
Clinical Dysmorphology|December 6, 2024
Autosomal recessive renal tubular dysgenesis: antenatal ultrasound scanning and molecular investigationsYang Liu, Caiqun Luo, Xiaoxia Wu, et al.
Clinical Dysmorphology|January 14, 2020
A report of gonadal mosaicism in DHX30-related neurodevelopmental disorderLaura A Cross, Kirsty McWalter, Jennifer Keller-Ramey, et al.
Clinical Dysmorphology|December 12, 2022
The dysmorphic phenotype in vascular Ehlers Danlos syndromeJames R Lyness, Patrick J Morrison
Clinical Dysmorphology|December 12, 2022
3MC syndrome: molecular findings in previously reported and milder patients expand the natural history and phenotypic spectrumChloe Jade Ashton, Rahat Perveen, Glenda Beaman, et al.
Pageof 189