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Cardiovascular manifestations of hypermobile Ehlers–Danlos syndrome and hypermobility spectrum disorders

Vascular medicine (London, England), 2022-06, Vol.27 (3), p.283-289

2022

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Expansion of phenotype and genotypic data in CRB2-related syndrome

European journal of human genetics : EJHG, 2016-10, Vol.24 (10), p.1436-1444

2016

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Pompe disease: Dramatic improvement in gastrointestinal function following enzyme replacement therapy. A report of three later-onset patients

Molecular genetics and metabolism, 2010-10, Vol.101 (2-3), p.130-133

2010

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ABCA12 Is the Major Harlequin Ichthyosis Gene

Journal of investigative dermatology, 2006-11, Vol.126 (11), p.2408-2413

2006

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Prenatal cytogenomic identification and molecular refinement of compound heterozygous STRC deletion breakpoints

Molecular genetics & genomic medicine, 2019-08, Vol.7 (8), p.e806-n/a

2019

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CRB2 Mutations Produce a Phenotype Resembling Congenital Nephrosis, Finnish Type, with Cerebral Ventriculomegaly and Raised Alpha-Fetoprotein

American journal of human genetics, 2015-01, Vol.96 (1), p.162-169

2015

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Dysautonomia in hypermobile Ehlers–Danlos syndrome and hypermobility spectrum disorders is associated with exercise intolerance and cardiac atrophy

American journal of medical genetics. Part A, 2021-12, Vol.185 (12), p.3754-3761

2021

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Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy

Molecular genetics and metabolism, 2013-11, Vol.110 (3), p.345-351

2013

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Clinical and molecular delineation of the Greig cephalopolysyndactyly contiguous gene deletion syndrome and its distinction from acrocallosal syndrome

American journal of medical genetics, 2003-12, Vol.123A (3), p.236-242

2003

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46,XY disorder of sex development and developmental delay associated with a novel 9q33.3 microdeletion encompassing NR5A1

European journal of medical genetics, 2013-11, Vol.56 (11), p.619-623

2013

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Cleft lip and/or palate: one organization's experience with more than a quarter million surgeries during the past decade

The Journal of craniofacial surgery, 2014-09, Vol.25 (5), p.1601-1609

2014

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Atypical Chédiak-Higashi syndrome with attenuated phenotype: three adult siblings homozygous for a novel LYST deletion and with neurodegenerative disease

Orphanet journal of rare diseases, 2013-03, Vol.8 (1), p.46-46

2013

Volltextzugriff (PDF)

Mandibular distraction in the setting of chromosome 4q deletion

Journal of plastic, reconstructive & aesthetic surgery, 2012-04, Vol.65 (4), p.e95-e98

2012

Volltextzugriff (PDF)

8p23.1 duplication syndrome; common, confirmed, and novel features in six further patients

American journal of medical genetics. Part A, 2013-03, Vol.161A (3), p.487-500

2013

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In-frame de novo mutation in BICD2 in two patients with muscular atrophy and arthrogryposis

Cold Spring Harbor molecular case studies, 2018-10, Vol.4 (5), p.a003160

2018

Volltextzugriff (PDF)

Ovotesticular Disorder of Sexual Development (True Hermaphroditism)

Urology (Ridgewood, N.J.), 2009-02, Vol.73 (2), p.293-296

2009

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Carrier state for the nebulin exon 55 deletion and abnormal prenatal ultrasound findings as potential signs of nemaline myopathy

Prenatal diagnosis, 2012-01, Vol.32 (1), p.70-74

2012

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The 12q14 microdeletion syndrome: Additional patients and further evidence that HMGA2 is an important genetic determinant for human height

European journal of medical genetics, 2009-03, Vol.52 (2), p.101-107

2009

Volltextzugriff (PDF)

Lateral nasal proboscis: antenatal diagnosis and counseling

Obstetrics and gynecology (New York. 1953), 1999-11, Vol.94 (5), p.815-817

1999

Volltextzugriff (PDF)

Clinical and virologic characteristics of the first 12 patients with coronavirus disease 2019 (COVID-19) in the United States

Nature medicine, 2020-06, Vol.26 (6), p.861-868

2020

Volltextzugriff (PDF)

Social cognition of patients with schizophrenia across the phases of illness - A longitudinal study

Schizophrenia research, 2017-12, Vol.190, p.150-159

2017

Volltextzugriff (PDF)

Evidence for reprogramming of monocytes into reparative alveolar macrophages in vivo by targeting PDE4b

American journal of physiology. Lung cellular and molecular physiology, 2021-10, Vol.321 (4), p.L686-L702

2021

Volltextzugriff (PDF)

Induction and Maintenance Therapy With Infliximab for Children With Moderate to Severe Ulcerative Colitis

Clinical gastroenterology and hepatology, 2012-04, Vol.10 (4), p.391-399.e1

2012

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Identification of deletion-duplication in HEXA gene in five children with Tay-Sachs disease from India

BMC medical genetics, 2018-07, Vol.19 (1), p.109-5, Article 109

2018

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Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease

Genetics in medicine, 2009-03, Vol.11 (3), p.210-219

2009

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Cardiovascular manifestations of hypermobile Ehlers–Danlos syndrome and hypermobility spectrum disorders

Expansion of phenotype and genotypic data in CRB2-related syndrome

Pompe disease: Dramatic improvement in gastrointestinal function following enzyme replacement therapy. A report of three later-onset patients

ABCA12 Is the Major Harlequin Ichthyosis Gene

Prenatal cytogenomic identification and molecular refinement of compound heterozygous STRC deletion breakpoints

CRB2 Mutations Produce a Phenotype Resembling Congenital Nephrosis, Finnish Type, with Cerebral Ventriculomegaly and Raised Alpha-Fetoprotein

Dysautonomia in hypermobile Ehlers–Danlos syndrome and hypermobility spectrum disorders is associated with exercise intolerance and cardiac atrophy

Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy

Clinical and molecular delineation of the Greig cephalopolysyndactyly contiguous gene deletion syndrome and its distinction from acrocallosal syndrome

46,XY disorder of sex development and developmental delay associated with a novel 9q33.3 microdeletion encompassing NR5A1

Cleft lip and/or palate: one organization's experience with more than a quarter million surgeries during the past decade

Atypical Chédiak-Higashi syndrome with attenuated phenotype: three adult siblings homozygous for a novel LYST deletion and with neurodegenerative disease

Mandibular distraction in the setting of chromosome 4q deletion

8p23.1 duplication syndrome; common, confirmed, and novel features in six further patients

In-frame de novo mutation in BICD2 in two patients with muscular atrophy and arthrogryposis

Ovotesticular Disorder of Sexual Development (True Hermaphroditism)

Carrier state for the nebulin exon 55 deletion and abnormal prenatal ultrasound findings as potential signs of nemaline myopathy

The 12q14 microdeletion syndrome: Additional patients and further evidence that HMGA2 is an important genetic determinant for human height

Lateral nasal proboscis: antenatal diagnosis and counseling

Clinical and virologic characteristics of the first 12 patients with coronavirus disease 2019 (COVID-19) in the United States

Social cognition of patients with schizophrenia across the phases of illness - A longitudinal study

Evidence for reprogramming of monocytes into reparative alveolar macrophages in vivo by targeting PDE4b

Induction and Maintenance Therapy With Infliximab for Children With Moderate to Severe Ulcerative Colitis

Identification of deletion-duplication in HEXA gene in five children with Tay-Sachs disease from India

Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease

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