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Mutations in Bone Morphogenetic Protein Receptor 1B Cause Brachydactyly Type A2

Proceedings of the National Academy of Sciences - PNAS, 2003-10, Vol.100 (21), p.12277-12282

2003

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Polyalanine expansion in HOXA13: three new affected families and the molecular consequences in a mouse model

Human molecular genetics, 2004-11, Vol.13 (22), p.2841-2851

2004

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Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2

The Journal of clinical investigation, 2005-09, Vol.115 (9), p.2373-2381

2005

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Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations

Journal of medical genetics, 2007-02, Vol.44 (2), p.131-135

2007

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A novel R486Q mutation in BMPR1B resulting in either a brachydactyly type C symphalangism-like phenotype or brachydactyly type A2

European journal of human genetics : EJHG, 2006-12, Vol.14 (12), p.1248-1254

2006

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Brachydactyly type A2 associated with a defect in proGDF5 processing

Human molecular genetics, 2008-05, Vol.17 (9), p.1222-1233

2008

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Catel–Manzke syndrome: Two new patients and a critical review of the literature

European journal of medical genetics, 2008-09, Vol.51 (5), p.452-465

2008

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Compound heterozygosity for GDF5 in Du Pan type chondrodysplasia

American journal of medical genetics. Part A, 2008-08, Vol.146A (16), p.2116-2121

2008

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Antenatal onset of cortical hyperostosis (Caffey disease): Case report and review

American journal of medical genetics, 2003-08, Vol.120A (4), p.547-552

2003

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An unusual combination of EEC syndrome and hypomelanosis ito due to a p63 mutation

European journal of pediatrics, 2005-08, Vol.164 (8), p.530-531

2005

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Beratungsgesprache aufgrund von Down-Syndrom in der entfernteren Verwandtschaft : Indikation zur Chromosomenanalyse bei den Ratsuchenden

Lehmann, Katarina

1999

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Prenatal diagnosis of partial agenesis of the corpus callosum in a fetus with thanatophoric dysplasia type 2

Prenatal diagnosis, 2002-05, Vol.22 (5), p.404-407

2002

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Ring chromosome 6 in three fetuses: Case reports, literature review, and implications for prenatal diagnosis

American journal of medical genetics, 2002-03, Vol.108 (2), p.97-104

2002

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Compound heterozygosity for GDF5 in Du Pan type chondrodysplasia

American Journal of Medical Genetics Part A, 2008, Vol.146A (16), p.2116-2121

2008

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Alterations of BMP signaling pathway(s) in skeletal diseases

Bone Morphogenetic Proteins: From Local to Systemic Therapeutics, p.141-159

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Antenatal onset of cortical hyperostosis (Caffey disease): Case report and review

American Journal of Medical Genetics Part A, 2003, Vol.120A (4), p.547-552

2003

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Sonographic postpartum anal sphincter defects and the association with pelvic floor pain and dyspareunia

Acta obstetricia et gynecologica Scandinavica, 2023-10, Vol.102 (10), p.1290-1297

2023

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Use of endoanal ultrasound in detecting obstetric anal sphincter injury immediately after birth

Acta obstetricia et gynecologica Scandinavica, 2023-03, Vol.102 (3), p.389-395

2023

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Ivabradine use in pregnant women—treatment indications and pregnancy outcome: an evaluation of the German Embryotox database

European journal of clinical pharmacology, 2021-07, Vol.77 (7), p.1029-1037

2021

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Sexual Activity Without Condoms and Risk of HIV Transmission in Serodifferent Couples When the HIV-Positive Partner Is Using Suppressive Antiretroviral Therapy

JAMA : the journal of the American Medical Association, 2016-07, Vol.316 (2), p.171

2016

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Reduced Cell Adhesion on LightPLAS-Coated Implant Surfaces in a Three-Dimensional Bioreactor System

International journal of molecular sciences, 2023-07, Vol.24 (14), p.11608

2023

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Cardio-oncology imaging tools at the translational interface

Journal of molecular and cellular cardiology, 2022-07, Vol.168, p.24-32

2022

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Circulating palmitoleic acid is an independent determinant of insulin sensitivity, beta cell function and glucose tolerance in non-diabetic individuals: a longitudinal analysis

Diabetologia, 2020-01, Vol.63 (1), p.206-218

2020

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PIA2Work

Psychiatrische Praxis, 2017-04, Vol.44 (3), p.108-110

2017

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The Oncolytic Efficacy and in Vivo Pharmacokinetics of [2-(4-Chlorophenyl)quinolin-4-yl](piperidine-2-yl)methanol (Vacquinol-1) Are Governed by Distinct Stereochemical Features

Journal of medicinal chemistry, 2016-09, Vol.59 (18), p.8577-8592

2016

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Mutations in Bone Morphogenetic Protein Receptor 1B Cause Brachydactyly Type A2

Polyalanine expansion in HOXA13: three new affected families and the molecular consequences in a mouse model

Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2

Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations

A novel R486Q mutation in BMPR1B resulting in either a brachydactyly type C symphalangism-like phenotype or brachydactyly type A2

Brachydactyly type A2 associated with a defect in proGDF5 processing

Catel–Manzke syndrome: Two new patients and a critical review of the literature

Compound heterozygosity for GDF5 in Du Pan type chondrodysplasia

Antenatal onset of cortical hyperostosis (Caffey disease): Case report and review

An unusual combination of EEC syndrome and hypomelanosis ito due to a p63 mutation

Beratungsgesprache aufgrund von Down-Syndrom in der entfernteren Verwandtschaft : Indikation zur Chromosomenanalyse bei den Ratsuchenden

Prenatal diagnosis of partial agenesis of the corpus callosum in a fetus with thanatophoric dysplasia type 2

Ring chromosome 6 in three fetuses: Case reports, literature review, and implications for prenatal diagnosis

Compound heterozygosity for GDF5 in Du Pan type chondrodysplasia

Alterations of BMP signaling pathway(s) in skeletal diseases

Antenatal onset of cortical hyperostosis (Caffey disease): Case report and review

Sonographic postpartum anal sphincter defects and the association with pelvic floor pain and dyspareunia

Use of endoanal ultrasound in detecting obstetric anal sphincter injury immediately after birth

Ivabradine use in pregnant women—treatment indications and pregnancy outcome: an evaluation of the German Embryotox database

Sexual Activity Without Condoms and Risk of HIV Transmission in Serodifferent Couples When the HIV-Positive Partner Is Using Suppressive Antiretroviral Therapy

Reduced Cell Adhesion on LightPLAS-Coated Implant Surfaces in a Three-Dimensional Bioreactor System

Cardio-oncology imaging tools at the translational interface

Circulating palmitoleic acid is an independent determinant of insulin sensitivity, beta cell function and glucose tolerance in non-diabetic individuals: a longitudinal analysis

PIA2Work

The Oncolytic Efficacy and in Vivo Pharmacokinetics of [2-(4-Chlorophenyl)quinolin-4-yl](piperidine-2-yl)methanol (Vacquinol-1) Are Governed by Distinct Stereochemical Features

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