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Clinical genetics

Showing results (661-670 of 7,173) with videos related to

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Clinical Genetics|March 15, 2011
Spanish MYH7 founder mutation of Italian ancestry causing a large cluster of Laing myopathy patientsN Muelas, P Hackman, H Luque, et al.
Clinical Genetics|May 4, 2011
Molecular testing in congenital adrenal hyperplasia due to 21α-hydroxylase deficiency in the era of newborn screeningK Sarafoglou, C P Lorentz, N Otten, et al.
Clinical Genetics|May 4, 2011
Novel TMPRSS3 variants in Pakistani families with autosomal recessive non-syndromic hearing impairmentK Lee, S Khan, A Islam, et al.
Clinical Genetics|March 30, 2011
Frequent mutation in North African patients with MUTYH-associated polyposisJ H Lefevre, C Colas, F Coulet, et al.
Clinical Genetics|January 1, 1990
Consanguinity and the genetic control of Down syndromeH A Hamamy, Z S al-Hakkak, S al-Taha
Clinical Genetics|April 5, 2011
Severe α-1 antitrypsin deficiency caused by Q0(Ourém) allele: clinical features, haplotype characterization and historyL Vaz Rodrigues, F Costa, P Marques, et al.
Clinical Genetics|April 12, 2011
Sequencing: the next generation. Moving beyond population-based recessive disease carrier screeningC E Kobelka
Clinical Genetics|November 1, 1990
Three years' diagnostic experience with direct karyotyping of neonatal bloodI Garnham, G R Sutherland
Clinical Genetics|June 1, 2011
Amplicon-based high-throughput pooled sequencing identifies mutations in CYP7B1 and SPG7 in sporadic spastic paraplegia patientsN A Schlipf, R Schüle, S Klimpe, et al.
Clinical Genetics|April 27, 2011
Hippocampal dysgenesis and variable neuropsychiatric phenotypes in patients with Bardet-Biedl syndrome underline complex CNS impact of primary ciliaV Bennouna-Greene, S Kremer, C Stoetzel, et al.
Pageof 718

Showing results (661-670 of 7,173) with videos related to

Sort By:
Pageof 718
Clinical Genetics|March 15, 2011
Spanish MYH7 founder mutation of Italian ancestry causing a large cluster of Laing myopathy patientsN Muelas, P Hackman, H Luque, et al.
Clinical Genetics|May 4, 2011
Molecular testing in congenital adrenal hyperplasia due to 21α-hydroxylase deficiency in the era of newborn screeningK Sarafoglou, C P Lorentz, N Otten, et al.
Clinical Genetics|May 4, 2011
Novel TMPRSS3 variants in Pakistani families with autosomal recessive non-syndromic hearing impairmentK Lee, S Khan, A Islam, et al.
Clinical Genetics|March 30, 2011
Frequent mutation in North African patients with MUTYH-associated polyposisJ H Lefevre, C Colas, F Coulet, et al.
Clinical Genetics|January 1, 1990
Consanguinity and the genetic control of Down syndromeH A Hamamy, Z S al-Hakkak, S al-Taha
Clinical Genetics|April 5, 2011
Severe α-1 antitrypsin deficiency caused by Q0(Ourém) allele: clinical features, haplotype characterization and historyL Vaz Rodrigues, F Costa, P Marques, et al.
Clinical Genetics|April 12, 2011
Sequencing: the next generation. Moving beyond population-based recessive disease carrier screeningC E Kobelka
Clinical Genetics|November 1, 1990
Three years' diagnostic experience with direct karyotyping of neonatal bloodI Garnham, G R Sutherland
Clinical Genetics|June 1, 2011
Amplicon-based high-throughput pooled sequencing identifies mutations in CYP7B1 and SPG7 in sporadic spastic paraplegia patientsN A Schlipf, R Schüle, S Klimpe, et al.
Clinical Genetics|April 27, 2011
Hippocampal dysgenesis and variable neuropsychiatric phenotypes in patients with Bardet-Biedl syndrome underline complex CNS impact of primary ciliaV Bennouna-Greene, S Kremer, C Stoetzel, et al.
Pageof 718