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Martina Witsch-Baumgartner

Showing results (1-10 of 28) with videos related to

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Prenatal Diagnosis|September 12, 2002
Molecular prenatal diagnosis of Smith-Lemli-Opitz syndrome is reliable and efficientJudith Loeffler, Gerd Utermann, Martina Witsch-Baumgartner
SAGE Open Medical Case Reports|May 12, 2017
Marathoning with myotonic dystrophy type 2 (proximal myotonic myopathy) and leukopeniaJosef Finsterer, Georg Safoschnik, Martina Witsch-Baumgartner
Gynecologic and Obstetric Investigation|June 15, 2016
Influences of Pregnancy on Different Genetic Subtypes of Non-Dystrophic Myotonia and Periodic ParalysisSabine Rudnik-Schöneborn, Martina Witsch-Baumgartner, Klaus Zerres
European Journal of Human Genetics : EJHG|July 4, 2020
EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiencySabina Baumgartner-Parzer, Martina Witsch-Baumgartner, Wolfgang Hoeppner
European Journal of Pediatrics|July 17, 2014
Don't miss patients with atypical FMR1 mutations: dysmorphism and clinical features in a boy with a partially methylated FMR1 full mutationEdda Haberlandt, Sibylle Zotter, Martina Witsch-Baumgartner, et al.
European Journal of Human Genetics : EJHG|August 30, 2012
Maternal ABCA1 genotype is associated with severity of Smith-Lemli-Opitz syndrome and with viability of patients homozygous for null mutationsBarbara Lanthaler, Elisabeth Steichen-Gersdorf, Barbara Kollerits, et al.
Neuropediatrics|January 14, 2016
A Novel Variant in the HINT1 Gene in a Girl with Autosomal Recessive Axonal Neuropathy with Neuromyotonia: Thorough Neurological Examination Gives the ClueMarkus Rauchenzauner, Martin Frühwirth, Martin Hecht, et al.
Clinical Genetics|July 7, 2023
Filling the gap: Genetic risk assessment in hypercholesterolemia using LDL-C and LPA genetic scoresGunda Schwaninger, Lukas Forer, Christoph Ebenbichler, et al.
Gene|August 12, 2014
Genotype-based databases for variants causing rare diseasesBarbara Lanthaler, Stefanie Wieser, Andrea Deutschmann, et al.
Clinical Oral Investigations|February 9, 2020
Expanding the phenotype of hypomaturation amelogenesis imperfecta due to a novel SLC24A4 variantUlrike Lepperdinger, Elisabeth Maurer, Martina Witsch-Baumgartner, et al.
Pageof 3

Showing results (1-10 of 28) with videos related to

Sort By:
Pageof 3
Prenatal Diagnosis|September 12, 2002
Molecular prenatal diagnosis of Smith-Lemli-Opitz syndrome is reliable and efficientJudith Loeffler, Gerd Utermann, Martina Witsch-Baumgartner
SAGE Open Medical Case Reports|May 12, 2017
Marathoning with myotonic dystrophy type 2 (proximal myotonic myopathy) and leukopeniaJosef Finsterer, Georg Safoschnik, Martina Witsch-Baumgartner
Gynecologic and Obstetric Investigation|June 15, 2016
Influences of Pregnancy on Different Genetic Subtypes of Non-Dystrophic Myotonia and Periodic ParalysisSabine Rudnik-Schöneborn, Martina Witsch-Baumgartner, Klaus Zerres
European Journal of Human Genetics : EJHG|July 4, 2020
EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiencySabina Baumgartner-Parzer, Martina Witsch-Baumgartner, Wolfgang Hoeppner
European Journal of Pediatrics|July 17, 2014
Don't miss patients with atypical FMR1 mutations: dysmorphism and clinical features in a boy with a partially methylated FMR1 full mutationEdda Haberlandt, Sibylle Zotter, Martina Witsch-Baumgartner, et al.
European Journal of Human Genetics : EJHG|August 30, 2012
Maternal ABCA1 genotype is associated with severity of Smith-Lemli-Opitz syndrome and with viability of patients homozygous for null mutationsBarbara Lanthaler, Elisabeth Steichen-Gersdorf, Barbara Kollerits, et al.
Neuropediatrics|January 14, 2016
A Novel Variant in the HINT1 Gene in a Girl with Autosomal Recessive Axonal Neuropathy with Neuromyotonia: Thorough Neurological Examination Gives the ClueMarkus Rauchenzauner, Martin Frühwirth, Martin Hecht, et al.
Clinical Genetics|July 7, 2023
Filling the gap: Genetic risk assessment in hypercholesterolemia using LDL-C and LPA genetic scoresGunda Schwaninger, Lukas Forer, Christoph Ebenbichler, et al.
Gene|August 12, 2014
Genotype-based databases for variants causing rare diseasesBarbara Lanthaler, Stefanie Wieser, Andrea Deutschmann, et al.
Clinical Oral Investigations|February 9, 2020
Expanding the phenotype of hypomaturation amelogenesis imperfecta due to a novel SLC24A4 variantUlrike Lepperdinger, Elisabeth Maurer, Martina Witsch-Baumgartner, et al.
Pageof 3