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Hanan Hamamy

Showing results (51-60 of 56) with videos related to

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Human Mutation|July 22, 2014
Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous familiesPeriklis Makrythanasis, Mari Nelis, Federico A Santoni, et al.
Genome Research|April 29, 2015
Exome sequencing reveals pathogenic mutations in 91 strains of mice with Mendelian disordersHeather Fairfield, Anuj Srivastava, Guruprasad Ananda, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 11, 2011
Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop ReportHanan Hamamy, Stylianos E Antonarakis, Luigi Luca Cavalli-Sforza, et al.
Nature Genetics|January 22, 2022
Author Correction: Mutations in PYCR1 cause cutis laxa with progeroid featuresBruno Reversade, Nathalie Escande-Beillard, Aikaterini Dimopoulou, et al.
Nature Genetics|August 4, 2009
Mutations in PYCR1 cause cutis laxa with progeroid featuresBruno Reversade, Nathalie Escande-Beillard, Aikaterini Dimopoulou, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 7, 2021
Biallelic variants in TMEM222 cause a new autosomal recessive neurodevelopmental disorderDaniel L Polla, Mohammad Ali Farazi Fard, Zahra Tabatabaei, et al.
Pageof 6

Showing results (51-60 of 56) with videos related to

Sort By:
Pageof 6
You have reached the last page of results.This site can display upto 56 results.
Human Mutation|July 22, 2014
Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous familiesPeriklis Makrythanasis, Mari Nelis, Federico A Santoni, et al.
Genome Research|April 29, 2015
Exome sequencing reveals pathogenic mutations in 91 strains of mice with Mendelian disordersHeather Fairfield, Anuj Srivastava, Guruprasad Ananda, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 11, 2011
Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop ReportHanan Hamamy, Stylianos E Antonarakis, Luigi Luca Cavalli-Sforza, et al.
Nature Genetics|January 22, 2022
Author Correction: Mutations in PYCR1 cause cutis laxa with progeroid featuresBruno Reversade, Nathalie Escande-Beillard, Aikaterini Dimopoulou, et al.
Nature Genetics|August 4, 2009
Mutations in PYCR1 cause cutis laxa with progeroid featuresBruno Reversade, Nathalie Escande-Beillard, Aikaterini Dimopoulou, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 7, 2021
Biallelic variants in TMEM222 cause a new autosomal recessive neurodevelopmental disorderDaniel L Polla, Mohammad Ali Farazi Fard, Zahra Tabatabaei, et al.
Pageof 6