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Publications by Jördis Semmer

Arachnomelia Syndrome in Simmental Cattle Is Caused by a Homozygous 2-Bp Deletion in the Molybdenum Cofactor Synthesis Step 1 Gene (MOCS1)

English

Related publications

Further Delineation of the Phenotype Caused by a Novel Large Homozygous Deletion of GRID2 Gene in an Adult Patient

Clinical Case Reports

English

Embryonic Lethality of Arabidopsis Abp1-1 Is Caused by Deletion of the Adjacent BSM Gene

English

Mainzer-Saldino Syndrome Is a Ciliopathy Caused by Mutations in the IFT140 Gene

English

Crisponi Syndrome Is Caused by Mutations in the CRLF1 Gene and Is Allelic to Cold-Induced Sweating Syndrome Type 1

American Journal of Human Genetics

English

A Homozygous Deletion of the DPY19L2 Gene Is a Cause of Globozoospermia in Men From the Republic of Macedonia

Balkan Journal of Medical Genetics

English

Immunogenetic Indicators in Simmental Cattle Breeding

Agricultural Science Euro-North-East

English

Characterization of a Novel Large Deletion Caused by Double-Stranded Breaks in 6-Bp Microhomologous Sequences of Intron 11 and 12 of the F13A1 Gene

Human Genome Variation

Molecular Biology

English

Dominantly Inherited Distal Nemaline/Cap Myopathy Caused by a Large Deletion in the Nebulin Gene

Neuromuscular Disorders

English

Homozygous Deletion in MYL9 Expands the Molecular Basis of Megacystis–microcolon–intestinal Hypoperistalsis Syndrome

European Journal of Human Genetics

English