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Attenuated BMP1 Function Compromises Osteogenesis, Leading to Bone Fragility in Humans and Zebrafish

American journal of human genetics, 2012-04, Vol.90 (4), p.661-674

2012

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Mutation in Exon 1f of PLEC, Leading to Disruption of Plectin Isoform 1f, Causes Autosomal-Recessive Limb-Girdle Muscular Dystrophy

American journal of human genetics, 2010-12, Vol.87 (6), p.834-841

2010

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Mutations in RIPK4 Cause the Autosomal-Recessive Form of Popliteal Pterygium Syndrome

American journal of human genetics, 2012-01, Vol.90 (1), p.76-85

2012

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Defining mitochondrial protein functions through deep multiomic profiling

Nature (London), 2022-06, Vol.606 (7913), p.382-388

2022

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Disruption of PTPRO Causes Childhood-Onset Nephrotic Syndrome

American journal of human genetics, 2011-07, Vol.89 (1), p.139-147

2011

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Disruption of ALX1 Causes Extreme Microphthalmia and Severe Facial Clefting: Expanding the Spectrum of Autosomal-Recessive ALX-Related Frontonasal Dysplasia

American journal of human genetics, 2010-05, Vol.86 (5), p.789-796

2010

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Recurrent viral infections associated with a homozygous CORO1A mutation that disrupts oligomerization and cytoskeletal association

Journal of allergy and clinical immunology, 2016-03, Vol.137 (3), p.879-888.e2

2016

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Mutations Affecting the BHLHA9 DNA-Binding Domain Cause MSSD, Mesoaxial Synostotic Syndactyly with Phalangeal Reduction, Malik-Percin Type

American journal of human genetics, 2014-12, Vol.95 (6), p.649-659

2014

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Long-term results and comparison of flow re-direction endoluminal device and pipeline embolization device in endovascular treatment of intracranial carotid aneurysms

Interventional neuroradiology, 2022-06, Vol.28 (3), p.302-310

2022

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Electromagnetic Interference from Left Ventricular Assist Device (LVAD) Inhibiting the Pacing Function of an Implantable Cardioverter-Defibrillator (ICD) Device

Case reports in cardiology, 2018-01, Vol.2018 (2018), p.1-4

2018

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P.1.g.057 Relationship between plasma and tissue ghrelin levels and antimuscarinic induced convulsions in fasted mice after food intake

European neuropsychopharmacology, 2013-10, Vol.23, p.S222-S223

2013

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Congenital Ventricular Diverticulum or Aneurysm: A Difficult Diagnosis to Make

Case Reports in Cardiology, 2018-01, Vol.2018 (2018), p.1-5

2018

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Primary Carnitine Deficiency: A Rare, Reversible Metabolic Cardiomyopathy

Case Reports in Cardiology, 2018-01, Vol.2018 (2018), p.1-3

2018

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One Disease with two Faces: Semidominant Inheritance of a Novel HTRA1 Mutation in a Consanguineous Family

Journal of stroke and cerebrovascular diseases, 2021-09, Vol.30 (9), p.105997-105997, Article 105997

2021

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Scopolamine-induced convulsions in fasted mice after food intake: the evaluation of the contribution of M1 and M2 muscarinic receptor subtypes

European neuropsychopharmacology, 2016-10, Vol.26, p.S262-S263

2016

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Analysis of centrosome and DNA damage response in PLK4 associated Seckel syndrome

European journal of human genetics : EJHG, 2017-10, Vol.25 (10), p.1118-1125

2017

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A specific mutation in the distant sonic hedgehog (SHH) cis-regulator (ZRS) causes Werner mesomelic syndrome (WMS) while complete ZRS duplications underlie Haas type polysyndactyly and preaxial polydactyly (PPD) with or without triphalangeal thumb

Human mutation, 2010-01, Vol.31 (1), p.81-89

2010

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Noncompaction and Takotsubo Syndrome in a Neuromuscular Disorder

Case Reports in Cardiology, 2019-01, Vol.2019 (2019), p.1-3

2019

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CRIM1 haploinsufficiency causes defects in eye development in human and mouse

Human molecular genetics, 2015-04, Vol.24 (8), p.2267-2273

2015

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Acute Deterioration of Pulmonary Arterial Hypertension (PAH) in a Patient with Neurofibromatosis Type 1 (NF1)

Case reports in cardiology, 2019, Vol.2019 (2019), p.1-4

2019

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Safety and Efficacy of Triple Therapeutic Targets with Rivaroxaban after Acute Myocardial Infarction Complicated by Left Ventricular Thrombi in a Case of Nonvalvular Atrial Fibrillation

Case Reports in Cardiology, 2018-01, Vol.2018 (2018), p.1-5

2018

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Takotsubo Cardiomyopathy Associated with Polycythemia Vera

Case Reports in Cardiology, 2018-01, Vol.2018 (2018), p.1-4

2018

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Ranolazine for Angina in Hypertrophic Cardiomyopathy

Case Reports in Cardiology, 2018-01, Vol.2018 (2018), p.1-2

2018

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Mid-Left Ventricular Ballooning Variant Takotsubo Syndrome Induced by Treadmill Exercise Stress Testing

Case Reports in Cardiology, 2018-01, Vol.2018 (2018), p.1-3

2018

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Attenuated BMP1 Function Compromises Osteogenesis, Leading to Bone Fragility in Humans and Zebrafish

Mutation in Exon 1f of PLEC, Leading to Disruption of Plectin Isoform 1f, Causes Autosomal-Recessive Limb-Girdle Muscular Dystrophy

Mutations in RIPK4 Cause the Autosomal-Recessive Form of Popliteal Pterygium Syndrome

Defining mitochondrial protein functions through deep multiomic profiling

HEATR3 variants impair nuclear import of uL18 (RPL5) and drive Diamond-Blackfan anemia

Disruption of PTPRO Causes Childhood-Onset Nephrotic Syndrome

Disruption of ALX1 Causes Extreme Microphthalmia and Severe Facial Clefting: Expanding the Spectrum of Autosomal-Recessive ALX-Related Frontonasal Dysplasia

Recurrent viral infections associated with a homozygous CORO1A mutation that disrupts oligomerization and cytoskeletal association

Mutations Affecting the BHLHA9 DNA-Binding Domain Cause MSSD, Mesoaxial Synostotic Syndactyly with Phalangeal Reduction, Malik-Percin Type

Long-term results and comparison of flow re-direction endoluminal device and pipeline embolization device in endovascular treatment of intracranial carotid aneurysms

Electromagnetic Interference from Left Ventricular Assist Device (LVAD) Inhibiting the Pacing Function of an Implantable Cardioverter-Defibrillator (ICD) Device

P.1.g.057 Relationship between plasma and tissue ghrelin levels and antimuscarinic induced convulsions in fasted mice after food intake

Congenital Ventricular Diverticulum or Aneurysm: A Difficult Diagnosis to Make

Primary Carnitine Deficiency: A Rare, Reversible Metabolic Cardiomyopathy

One Disease with two Faces: Semidominant Inheritance of a Novel HTRA1 Mutation in a Consanguineous Family

Scopolamine-induced convulsions in fasted mice after food intake: the evaluation of the contribution of M1 and M2 muscarinic receptor subtypes

Analysis of centrosome and DNA damage response in PLK4 associated Seckel syndrome

A specific mutation in the distant sonic hedgehog (SHH) cis-regulator (ZRS) causes Werner mesomelic syndrome (WMS) while complete ZRS duplications underlie Haas type polysyndactyly and preaxial polydactyly (PPD) with or without triphalangeal thumb

Noncompaction and Takotsubo Syndrome in a Neuromuscular Disorder

CRIM1 haploinsufficiency causes defects in eye development in human and mouse

Acute Deterioration of Pulmonary Arterial Hypertension (PAH) in a Patient with Neurofibromatosis Type 1 (NF1)

Safety and Efficacy of Triple Therapeutic Targets with Rivaroxaban after Acute Myocardial Infarction Complicated by Left Ventricular Thrombi in a Case of Nonvalvular Atrial Fibrillation

Takotsubo Cardiomyopathy Associated with Polycythemia Vera

Ranolazine for Angina in Hypertrophic Cardiomyopathy

Mid-Left Ventricular Ballooning Variant Takotsubo Syndrome Induced by Treadmill Exercise Stress Testing

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