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Long-term outcomes of childhood onset Noonan compared to sarcomere hypertrophic cardiomyopathy

Cardiovascular diagnosis and therapy, 2019-10, Vol.9 (S2), p.S299-S309

2019

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Microdeletion syndrome 16p11.2-p12.2: Clinical and molecular characterization

American journal of medical genetics. Part A, 2009-10, Vol.149A (10), p.2106-2112

2009

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There is more to it than just congenital heart defects – The phenotypic spectrum of TAB2-related syndrome

Gene, 2022-03, Vol.814, p.146167-146167, Article 146167

2022

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Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation

Genetics in medicine, 2016-12, Vol.18 (12), p.1226-1234

2016

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Clinical long-term outcome of septal myectomy for obstructive hypertrophic cardiomyopathy in infants

European journal of cardio-thoracic surgery, 2018-03, Vol.53 (3), p.538-544

2018

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Corrigendum to: ‘Clinical long-term outcome of septal myectomy for obstructive hypertrophic cardiomyopathy in infants’ [Eur J Cardiothorac Surg 2018;53:538--44]

European journal of cardio-thoracic surgery, 2018-03, Vol.53 (3), p.694-694

2018

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Two cases with severe lethal course of Costello syndrome associated with HRAS p.G12C and p.G12D

European journal of medical genetics, 2012-11, Vol.55 (11), p.615-619

2012

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Ellis–van Creveld syndrome and profound deafness resulted by sequence variants in the EVC / EVC2 and TMC1 genes

Journal of genetics, 2017-12, Vol.96 (6), p.1005-1014

2017

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Case-matched Comparison of Cardiovascular Outcome in Loeys-Dietz Syndrome versus Marfan Syndrome

Journal of clinical medicine, 2019-11, Vol.8 (12), p.2079

2019

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SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome

Journal of medical genetics, 2007-10, Vol.44 (10), p.651-656

2007

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Hemostatic abnormalities in adult patients with Marfan syndrome

Cardiovascular diagnosis and therapy, 2019-10, Vol.9 (S2), p.S209-S220

2019

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Early venous manifestation of Ehlers–Danlos syndrome Type IV through a novel mutation in COL3A1

Cardiovascular pathology, 2013-11, Vol.22 (6), p.488-492

2013

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Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation

European journal of human genetics : EJHG, 2004-11, Vol.12 (11), p.879-890

2004

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Early venous manifestation of Ehlers–Danlos syndrome Type IV through a novel mutation in COL 3A1

Cardiovascular pathology, 2013, Vol.22 (6), p.488-492

2013

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Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel-Gruber syndrome

Human mutation, 2007-06, Vol.28 (6), p.638-639

2007

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Microdeletion Syndrome 16p11.2-p12.: Clinical and Molecular Characterization

American journal of medical genetics. Part A, 2009, Vol.149 (10), p.2106-2112

2009

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Aberrant splicing is a common mutational mechanism inMKS1, a key player in Meckel-Gruber syndrome

Human mutation, 2007-06, Vol.28 (6), p.638-639

2007

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Marfan syndrome: what internists and pediatric or adult cardiologists need to know

Expert review of cardiovascular therapy, 2005-09, Vol.3 (5), p.891-909

2005

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Parental origin and mechanisms of formation of cytogenetically recognisable de novo direct and inverted duplications

Journal of medical genetics, 2000-04, Vol.37 (4), p.281-286

2000

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Deletion mapping by FISH with BACs in patients with partial monosomy 22q13

Human genetics, 1998-05, Vol.102 (5), p.557-561

1998

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De novo interstitial deletion 16(q12. 1q13) of paternal origin in a 10-year-old boy

Clinical genetics, 1992-11, Vol.42 (5), p.246-250

1992

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A Y/5 translocation in a 45,X male with cri du chat syndrome

Human genetics, 1987-10, Vol.77 (2), p.145-150

1987

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Marfan syndrome: what internists and pediatric or adult cardiologists need to know

Expert review of cardiovascular therapy, 2005-09, Vol.3 (5), p.891

2005

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Cytological and cytogenetical studies on brain tumors. V. Preferential loss of sex chromosomes in human meningiomas

Humangenetik, 1975-06, Vol.27 (2), p.119-128

1975

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Arthur Schnitzler: Flucht in die Finsternis. Eine produktionsästhetische Untersuchung

The German Quarterly, 1985, Vol.58 (2), p.291-292

Riemer, W.

1985

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Long-term outcomes of childhood onset Noonan compared to sarcomere hypertrophic cardiomyopathy

Microdeletion syndrome 16p11.2-p12.2: Clinical and molecular characterization

There is more to it than just congenital heart defects – The phenotypic spectrum of TAB2-related syndrome

Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation

Clinical long-term outcome of septal myectomy for obstructive hypertrophic cardiomyopathy in infants

Corrigendum to: ‘Clinical long-term outcome of septal myectomy for obstructive hypertrophic cardiomyopathy in infants’ [Eur J Cardiothorac Surg 2018;53:538--44]

Two cases with severe lethal course of Costello syndrome associated with HRAS p.G12C and p.G12D

Ellis–van Creveld syndrome and profound deafness resulted by sequence variants in the EVC / EVC2 and TMC1 genes

Case-matched Comparison of Cardiovascular Outcome in Loeys-Dietz Syndrome versus Marfan Syndrome

SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome

Hemostatic abnormalities in adult patients with Marfan syndrome

Early venous manifestation of Ehlers–Danlos syndrome Type IV through a novel mutation in COL3A1

Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation

Early venous manifestation of Ehlers–Danlos syndrome Type IV through a novel mutation in COL 3A1

Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel-Gruber syndrome

Microdeletion Syndrome 16p11.2-p12.: Clinical and Molecular Characterization

Aberrant splicing is a common mutational mechanism inMKS1, a key player in Meckel-Gruber syndrome

Marfan syndrome: what internists and pediatric or adult cardiologists need to know

Parental origin and mechanisms of formation of cytogenetically recognisable de novo direct and inverted duplications

Deletion mapping by FISH with BACs in patients with partial monosomy 22q13

De novo interstitial deletion 16(q12. 1q13) of paternal origin in a 10-year-old boy

A Y/5 translocation in a 45,X male with cri du chat syndrome

Marfan syndrome: what internists and pediatric or adult cardiologists need to know

Cytological and cytogenetical studies on brain tumors. V. Preferential loss of sex chromosomes in human meningiomas

Arthur Schnitzler: Flucht in die Finsternis. Eine produktionsästhetische Untersuchung

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