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Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8

American journal of human genetics, 2015-12, Vol.97 (6), p.886-893

2015

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Mutations in SRCAP, Encoding SNF2-Related CREBBP Activator Protein, Cause Floating-Harbor Syndrome

American journal of human genetics, 2012-02, Vol.90 (2), p.308-313

2012

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TMEM237 Is Mutated in Individuals with a Joubert Syndrome Related Disorder and Expands the Role of the TMEM Family at the Ciliary Transition Zone

American journal of human genetics, 2011-12, Vol.89 (6), p.713-730

2011

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High proportion of large genomic STK11 deletions in Peutz-Jeghers syndrome

Human mutation, 2005-12, Vol.26 (6), p.513-519

2005

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Haploinsufficiency of HDAC4 Causes Brachydactyly Mental Retardation Syndrome, with Brachydactyly Type E, Developmental Delays, and Behavioral Problems

American journal of human genetics, 2010-08, Vol.87 (2), p.219-228

2010

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Infantile Ictal Apneas in a Child With Williams-Beuren Syndrome

Pediatric neurology, 2013-02, Vol.48 (2), p.149-151

2013

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Recessive TRAPPC11 Mutations Cause a Disease Spectrum of Limb Girdle Muscular Dystrophy and Myopathy with Movement Disorder and Intellectual Disability

American journal of human genetics, 2013-07, Vol.93 (1), p.181-190

2013

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A shared founder mutation underlies restrictive dermopathy in Old Colony (Dutch-German) Mennonite and Hutterite patients in North America

American journal of medical genetics. Part A, 2012-05, Vol.158A (5), p.1229-1232

2012

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Matching Two Independent Cohorts Validates DPH1 as a Gene Responsible for Autosomal Recessive Intellectual Disability with Short Stature, Craniofacial, and Ectodermal Anomalies

Human mutation, 2015-10, Vol.36 (10), p.1015-1019

2015

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Clinical and molecular characterization of an almost complete ring chromosome 4 in two sisters, with recurrence due to gonadal mosaicism

Clinical dysmorphology, 2021-10, Vol.30 (4), p.173

2021

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Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro-costo-mandibular syndrome

Nature communications, 2014-07, Vol.5 (1), p.4483-4483, Article 4483

2014

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Homozygous Deletion of the Very Low Density Lipoprotein Receptor Gene Causes Autosomal Recessive Cerebellar Hypoplasia with Cerebral Gyral Simplification

American journal of human genetics, 2005-09, Vol.77 (3), p.477-483

2005

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Intellectual disability associated with a homozygous missense mutation in THOC6

Orphanet journal of rare diseases, 2013-04, Vol.8 (1), p.62-62, Article 62

2013

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Meckel syndrome in the Hutterite population is actually a Joubert-related cerebello-oculo-renal syndrome

American journal of medical genetics. Part A, 2007-08, Vol.143A (15), p.1715-1725

2007

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Familial Melanonychia Striata

Journal of the National Medical Association, 2008-06, Vol.100 (6), p.743-745

2008

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Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia?

Orphanet journal of rare diseases, 2012-09, Vol.7 (1), p.70-70, Article 70

2012

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Dominantly‐inherited lop ears

American journal of medical genetics. Part A, 2007-10, Vol.143A (19), p.2330-2333

2007

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Clinical genetics and the Hutterite population: A review of Mendelian disorders

American journal of medical genetics. Part A, 2008-04, Vol.146A (8), p.1088-1098

2008

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A novel autosomal recessive malformation syndrome associated with developmental delay and distinctive facies maps to 16ptel in the Hutterite population

American journal of medical genetics. Part A, 2010-06, Vol.152A (6), p.1349-1356

2010

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autosomal recessive cerebellar hypoplasia in the hutterite population

Developmental medicine and child neurology, 2005-10, Vol.47 (10), p.691-695

2005

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Dominantly inherited lop ears

American journal of medical genetics. Part A, 2008-05, Vol.146A (10), p.1368-1368

2008

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Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome

American journal of medical genetics. Part A, 2021-06, Vol.185 (6), p.1649-1665

2021

Volltextzugriff (PDF)

Familial cardiomyopathy with cataracts and lactic acidosis : A defect in complex I (NADH-dehydrogenase) of the mitochondria respiratory chain

Pediatric research, 1996-03, Vol.39 (3), p.513-521

1996

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Autosomal dominant flat umbilicus

American journal of medical genetics, 2004-12, Vol.131A (3), p.307-309

2004

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Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8

Mutations in SRCAP, Encoding SNF2-Related CREBBP Activator Protein, Cause Floating-Harbor Syndrome

TMEM237 Is Mutated in Individuals with a Joubert Syndrome Related Disorder and Expands the Role of the TMEM Family at the Ciliary Transition Zone

High proportion of large genomic STK11 deletions in Peutz-Jeghers syndrome

Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia

Haploinsufficiency of HDAC4 Causes Brachydactyly Mental Retardation Syndrome, with Brachydactyly Type E, Developmental Delays, and Behavioral Problems

Infantile Ictal Apneas in a Child With Williams-Beuren Syndrome

Recessive TRAPPC11 Mutations Cause a Disease Spectrum of Limb Girdle Muscular Dystrophy and Myopathy with Movement Disorder and Intellectual Disability

A shared founder mutation underlies restrictive dermopathy in Old Colony (Dutch-German) Mennonite and Hutterite patients in North America

Matching Two Independent Cohorts Validates DPH1 as a Gene Responsible for Autosomal Recessive Intellectual Disability with Short Stature, Craniofacial, and Ectodermal Anomalies

Clinical and molecular characterization of an almost complete ring chromosome 4 in two sisters, with recurrence due to gonadal mosaicism

Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro-costo-mandibular syndrome

Homozygous Deletion of the Very Low Density Lipoprotein Receptor Gene Causes Autosomal Recessive Cerebellar Hypoplasia with Cerebral Gyral Simplification

Intellectual disability associated with a homozygous missense mutation in THOC6

Meckel syndrome in the Hutterite population is actually a Joubert-related cerebello-oculo-renal syndrome

Familial Melanonychia Striata

Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia?

Dominantly‐inherited lop ears

Clinical genetics and the Hutterite population: A review of Mendelian disorders

A novel autosomal recessive malformation syndrome associated with developmental delay and distinctive facies maps to 16ptel in the Hutterite population

autosomal recessive cerebellar hypoplasia in the hutterite population

Dominantly inherited lop ears

Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome

Familial cardiomyopathy with cataracts and lactic acidosis : A defect in complex I (NADH-dehydrogenase) of the mitochondria respiratory chain

Autosomal dominant flat umbilicus

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