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Fragile-X-Associated Tremor/Ataxia Syndrome or Alcohol-Induced Cerebellar Degeneration? A Case Report

Case reports in neurology, 2020-12, Vol.12 (3), p.466-471

2020

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Zygotic-splitting after in vitro fertilization and prenatal parenthood testing after suspected embryo mix-up – a case report

International journal of legal medicine, 2024-09, Vol.138 (5), p.2057-2064

2024

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Gelsolin-Amyloidosis - An Exceptional Cause of Blepharochalasis

Klinische Monatsblatter fur Augenheilkunde, 2021-04, Vol.238 (4), p.349

2021

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Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome

Genetics in medicine, 2019-09, Vol.21 (9), p.2025-2035

2019

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Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability

American journal of human genetics, 2024-03, Vol.111 (3), p.509-528

2024

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SIL1 mutations and clinical spectrum in patients with Marinesco-Sjögren syndrome

Brain (London, England : 1878), 2013-12, Vol.136 (Pt 12), p.3634-3644

2013

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Expanding the spectrum ofTBX5 mutations in Holt-Oram syndrome: detection of two intragenic deletions by quantitative real time PCR, and report of eight novel point mutations

Human mutation, 2006-09, Vol.27 (9), p.975-976

2006

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Overgrowth-a clinical review not only for geneticists

European Journal of Human Genetics, 2020, Vol.28 (4), p.529-529

Wand, Dorothea

2020

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Low-level hyperinsulinism with hypoglycemic spells in an infant with mosaic Turner syndrome and mild Kabuki-like phenotype: a case report and review of the literature

Journal of pediatric endocrinology & metabolism : JPEM, 2014-01, Vol.27 (1-2), p.165

2014

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SOX10 mutation with peripheral amyelination and developmental disturbance of axons

Muscle & nerve, 2012-02, Vol.45 (2), p.284-290

2012

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Combined partial trisomy 11q and partial monosomy 10p in a 19‐year‐old female patient: Phenotypic and genotypic findings

American journal of medical genetics. Part A, 2011-12, Vol.155 (12), p.3075-3081

2011

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Expanding the spectrum of TBX5 mutations in Holt-Oram syndrome: detection of two intragenic deletions by quantitative real time PCR, and report of eight novel point mutations

Human mutation, 2006-09, Vol.27 (9), p.975-976

2006

Volltextzugriff (PDF)

Association of migraine‐like headaches with Schimke immuno‐osseous dysplasia

American journal of medical genetics. Part A, 2005-06, Vol.135A (2), p.206-210

2005

Volltextzugriff (PDF)

Fragile-X-Associated Tremor/Ataxia Syndrome or Alcohol-Induced Cerebellar Degeneration? A Case Report

Case reports in neurology, 2020, Vol.12 (3), p.466-471

2020

Volltextzugriff (PDF)

Association of migraine-like headaches with schimke immuno-osseous dysplasia

American journal of medical genetics, 2005, Vol.135A (2), p.206-210

2005

Volltextzugriff (PDF)

SOX10 mutation with peripheral amyelination and developmental disturbance of axons

Muscle & Nerve, 2012, Vol.45 (2), p.284-290

2012

Volltextzugriff (PDF)

Combined partial trisomy 11q and partial monosomy 10p in a 19-year-old female patient: Phenotypic and genotypic findings

American Journal of Medical Genetics Part A, 2011, Vol.155A (12), p.3075-3081

2011

Volltextzugriff (PDF)

Association of migraine-like headaches with Schimke immuno-osseous dysplasia

American Journal of Medical Genetics Part A, 2005, Vol.135A (2), p.206-210

2005

Volltextzugriff (PDF)

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Fragile-X-Associated Tremor/Ataxia Syndrome or Alcohol-Induced Cerebellar Degeneration? A Case Report

Zygotic-splitting after in vitro fertilization and prenatal parenthood testing after suspected embryo mix-up – a case report

Gelsolin-Amyloidosis - An Exceptional Cause of Blepharochalasis

Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome

Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability

SIL1 mutations and clinical spectrum in patients with Marinesco-Sjögren syndrome

Expanding the spectrum ofTBX5 mutations in Holt-Oram syndrome: detection of two intragenic deletions by quantitative real time PCR, and report of eight novel point mutations

Overgrowth-a clinical review not only for geneticists

Low-level hyperinsulinism with hypoglycemic spells in an infant with mosaic Turner syndrome and mild Kabuki-like phenotype: a case report and review of the literature

SOX10 mutation with peripheral amyelination and developmental disturbance of axons

Combined partial trisomy 11q and partial monosomy 10p in a 19‐year‐old female patient: Phenotypic and genotypic findings

Expanding the spectrum of TBX5 mutations in Holt-Oram syndrome: detection of two intragenic deletions by quantitative real time PCR, and report of eight novel point mutations

Association of migraine‐like headaches with Schimke immuno‐osseous dysplasia

Fragile-X-Associated Tremor/Ataxia Syndrome or Alcohol-Induced Cerebellar Degeneration? A Case Report

Association of migraine-like headaches with schimke immuno-osseous dysplasia

SOX10 mutation with peripheral amyelination and developmental disturbance of axons

Combined partial trisomy 11q and partial monosomy 10p in a 19-year-old female patient: Phenotypic and genotypic findings

Association of migraine-like headaches with Schimke immuno-osseous dysplasia

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