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Peter Nürnberg

Showing results (161-170 of 517) with videos related to

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Human Genetics|August 29, 2013
The missing "link": an autosomal recessive short stature syndrome caused by a hypofunctional XYLT1 mutationJulia Schreml, Burak Durmaz, Ozgur Cogulu, et al.
Human Genetics|May 7, 2021
Biallelic mutations in L-dopachrome tautomerase (DCT) cause infantile nystagmus and oculocutaneous albinismAlexander E Volk, Andrea Hedergott, Markus Preising, et al.
Annals of Neurology|February 27, 2010
Contractures and hypertrophic cardiomyopathy in a novel FHL1 mutationHans Knoblauch, Christian Geier, Stephanie Adams, et al.
Human Molecular Genetics|March 27, 2004
Haplotypes and SNPs in 13 lipid-relevant genes explain most of the genetic variance in high-density lipoprotein and low-density lipoprotein cholesterolHans Knoblauch, Anja Bauerfeind, Mohammad Reza Toliat, et al.
Human Genetics|December 2, 2015
A novel homozygous splicing mutation of CASC5 causes primary microcephaly in a large Pakistani familySandra Szczepanski, Muhammad Sajid Hussain, Ilknur Sur, et al.
Pediatric Neurology|May 29, 2012
Microcephaly-thin corpus callosum syndrome maps to 8q23.2-q24.12Ayelet Halevy, Lina Basel-Vanagaite, Avinoam Shuper, et al.
American Journal of Medical Genetics. Part A|November 6, 2020
Genotype-phenotype correlation in seven motor neuron disease families with novel ALS2 mutationsRosanne Sprute, Hannah Jergas, Akgün Ölmez, et al.
American Journal of Medical Genetics. Part A|December 16, 2021
A novel missense variant of SCN4A co-segregates with congenital essential tremor in a consanguineous Kurdish familyMaria Asif, Ionut Dragos Mocanu, Uzma Abdullah, et al.
Matrix Biology : Journal of the International Society for Matrix Biology|May 14, 2013
Identification of a Ninein (NIN) mutation in a family with spondyloepimetaphyseal dysplasia with joint laxity (leptodactylic type)-like phenotypeMelanie Grosch, Barbara Grüner, Stephanie Spranger, et al.
Human Molecular Genetics|May 23, 2003
Genome-wide linkage reveals a locus for human essential (primary) hypertension on chromosome 12pMaolian Gong, Hongye Zhang, Herbert Schulz, et al.
Pageof 52

Showing results (161-170 of 517) with videos related to

Sort By:
Pageof 52
Human Genetics|August 29, 2013
The missing "link": an autosomal recessive short stature syndrome caused by a hypofunctional XYLT1 mutationJulia Schreml, Burak Durmaz, Ozgur Cogulu, et al.
Human Genetics|May 7, 2021
Biallelic mutations in L-dopachrome tautomerase (DCT) cause infantile nystagmus and oculocutaneous albinismAlexander E Volk, Andrea Hedergott, Markus Preising, et al.
Annals of Neurology|February 27, 2010
Contractures and hypertrophic cardiomyopathy in a novel FHL1 mutationHans Knoblauch, Christian Geier, Stephanie Adams, et al.
Human Molecular Genetics|March 27, 2004
Haplotypes and SNPs in 13 lipid-relevant genes explain most of the genetic variance in high-density lipoprotein and low-density lipoprotein cholesterolHans Knoblauch, Anja Bauerfeind, Mohammad Reza Toliat, et al.
Human Genetics|December 2, 2015
A novel homozygous splicing mutation of CASC5 causes primary microcephaly in a large Pakistani familySandra Szczepanski, Muhammad Sajid Hussain, Ilknur Sur, et al.
Pediatric Neurology|May 29, 2012
Microcephaly-thin corpus callosum syndrome maps to 8q23.2-q24.12Ayelet Halevy, Lina Basel-Vanagaite, Avinoam Shuper, et al.
American Journal of Medical Genetics. Part A|November 6, 2020
Genotype-phenotype correlation in seven motor neuron disease families with novel ALS2 mutationsRosanne Sprute, Hannah Jergas, Akgün Ölmez, et al.
American Journal of Medical Genetics. Part A|December 16, 2021
A novel missense variant of SCN4A co-segregates with congenital essential tremor in a consanguineous Kurdish familyMaria Asif, Ionut Dragos Mocanu, Uzma Abdullah, et al.
Matrix Biology : Journal of the International Society for Matrix Biology|May 14, 2013
Identification of a Ninein (NIN) mutation in a family with spondyloepimetaphyseal dysplasia with joint laxity (leptodactylic type)-like phenotypeMelanie Grosch, Barbara Grüner, Stephanie Spranger, et al.
Human Molecular Genetics|May 23, 2003
Genome-wide linkage reveals a locus for human essential (primary) hypertension on chromosome 12pMaolian Gong, Hongye Zhang, Herbert Schulz, et al.
Pageof 52