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Encephalocraniocutaneous lipomatosis

Journal of Medical Genetics, 2009-11, Vol.46 (11), p.721-729

Moog, U

2009

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Oculodentodigital Dysplasia: A Hypomyelinating Leukodystrophy with a Characteristic MRI Pattern of Brain Stem Involvement

American journal of neuroradiology : AJNR, 2019-05, Vol.40 (5), p.903-907

2019

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PIK3R1 mutations in SHORT syndrome

Clinical genetics, 2014-09, Vol.86 (3), p.292-294

2014

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Loss of function of PGAP1 as a cause of severe encephalopathy identified by Whole Exome Sequencing: Lessons of the bioinformatics pipeline

Molecular and cellular probes, 2015-10, Vol.29 (5), p.323-329

2015

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Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations

Neurology, 2009-09, Vol.73 (12), p.962-969

2009

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At first sight or second glance: clinical presentation of mosaic manifestations of autosomal dominant skin disorders – a case series

Journal of the European Academy of Dermatology and Venereology, 2017-11, Vol.31 (11), p.1912-1915

2017

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Randomized Trial of a Shared Decision-Making Intervention Consisting of Trade-Offs and Individualized Treatment Information for BRCA1/2 Mutation Carriers

Journal of clinical oncology, 2004-08, Vol.22 (16), p.3293-3301

2004

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How fingers and face can be the clue?

European journal of neurology, 2012-03, Vol.19 (3), p.e27-e28

2012

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Silver-Russell syndrome due to maternal uniparental disomy 7 and a familial reciprocal translocation t(7;13)

Clinical genetics, 2012-11, Vol.82 (5), p.494-498

2012

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Deletion of MAP2K2/MEK2: a novel mechanism for a RASopathy?

Clinical genetics, 2014-02, Vol.85 (2), p.138-146

2014

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Mental retardation and inborn errors of metabolism

Journal of inherited metabolic disease, 2009-10, Vol.32 (5), p.597-608

2009

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Craniofrontonasal syndrome in a male due to chromosomal mosaicism involving EFNB1: further insights into a genetic paradox

Clinical genetics, 2014-04, Vol.85 (4), p.347-353

2014

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Acute Q fever infection in Thuringia, Germany, after burial of roe deer fawn cadavers ( Capreolus capreolus ): a case report

New microbes and new infections, 2015-11, Vol.8 (C), p.19-20

2015

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P-008 Influence of age and breed of sheep on the prevalence of Salmonella enterica subspecies diarizonae serovar 61: k: 1, 5, (7) in sheep

Animal - Science Proceedings, 2023-03, Vol.14 (1), p.213-213

2023

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Berufsgruppenspezifisches Risiko für eine Infektion mit Q-Fieber – wie gefährdet sind Hebammen und Ärzte im Kreissaal tatsächlich?

Geburtshilfe und Frauenheilkunde, 2018, Vol.78 (10)

2018

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Pseudoautosomal inheritance of Léri-Weill syndrome: what does it mean?

Clinical genetics, 2011-05, Vol.79 (5), p.489-494

2011

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Randomised trial of a decision aid and its timing for women being tested for a BRCA1 2 mutation

British journal of cancer, 2004-01, Vol.90 (2), p.333-342

2004

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Rett syndrome in females with CTS hot spot deletions: A disorder profile

American journal of medical genetics, 2005-01, Vol.132A (2), p.117-120

2005

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Berufsgruppenspezifisches Risiko für eine Infektion mit Q-Fieber – wie gefährdet sind Hebammen und Ärzte im Kreissaal tatsächlich?

Geburtshilfe und Frauenheilkunde, 2018, Vol.78 (5)

2018

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Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly

Brain (London, England : 1878), 2017-10, Vol.140 (10), p.2610-2622

2017

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5q31 Microdeletions: Definition of a Critical Region and Analysis of LRRTM2, a Candidate Gene for Intellectual Disability

Molecular syndromology, 2012-08, Vol.3 (2), p.68-75

2012

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O-044 Screening of sheep- and goat herds for Mycobacterium avium ssp. paratuberculosis using both environmental samples and specific antibodies in blood serum

Animal - Science Proceedings, 2023-03, Vol.14 (1), p.86-87

2023

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In-depth characterisation of a cohort of individuals with missense and loss-of-function variants disrupting FOXP2

Journal of medical genetics, 2023-06, Vol.60 (6), p.597-607

2023

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Recommendations for the husbandry and welfare of sheep and goats by the German Small Ruminant Veterinary Association. Part 1

Tierärztliche Praxis. Ausgabe G, Grosstiere/Nutztiere, 2012-10, Vol.40 (5), p.314

2012

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Phenotypic spectrum associated with CASK loss-of-function mutations

Journal of medical genetics, 2011-11, Vol.48 (11), p.741-751

2011

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Encephalocraniocutaneous lipomatosis

Oculodentodigital Dysplasia: A Hypomyelinating Leukodystrophy with a Characteristic MRI Pattern of Brain Stem Involvement

PIK3R1 mutations in SHORT syndrome

Loss of function of PGAP1 as a cause of severe encephalopathy identified by Whole Exome Sequencing: Lessons of the bioinformatics pipeline

Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations

At first sight or second glance: clinical presentation of mosaic manifestations of autosomal dominant skin disorders – a case series

Randomized Trial of a Shared Decision-Making Intervention Consisting of Trade-Offs and Individualized Treatment Information for BRCA1/2 Mutation Carriers

How fingers and face can be the clue?

Silver-Russell syndrome due to maternal uniparental disomy 7 and a familial reciprocal translocation t(7;13)

Deletion of MAP2K2/MEK2: a novel mechanism for a RASopathy?

Mental retardation and inborn errors of metabolism

Craniofrontonasal syndrome in a male due to chromosomal mosaicism involving EFNB1: further insights into a genetic paradox

Acute Q fever infection in Thuringia, Germany, after burial of roe deer fawn cadavers ( Capreolus capreolus ): a case report

P-008 Influence of age and breed of sheep on the prevalence of Salmonella enterica subspecies diarizonae serovar 61: k: 1, 5, (7) in sheep

Berufsgruppenspezifisches Risiko für eine Infektion mit Q-Fieber – wie gefährdet sind Hebammen und Ärzte im Kreissaal tatsächlich?

Pseudoautosomal inheritance of Léri-Weill syndrome: what does it mean?

Randomised trial of a decision aid and its timing for women being tested for a BRCA1 2 mutation

Rett syndrome in females with CTS hot spot deletions: A disorder profile

Berufsgruppenspezifisches Risiko für eine Infektion mit Q-Fieber – wie gefährdet sind Hebammen und Ärzte im Kreissaal tatsächlich?

Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly

5q31 Microdeletions: Definition of a Critical Region and Analysis of LRRTM2, a Candidate Gene for Intellectual Disability

O-044 Screening of sheep- and goat herds for Mycobacterium avium ssp. paratuberculosis using both environmental samples and specific antibodies in blood serum

In-depth characterisation of a cohort of individuals with missense and loss-of-function variants disrupting FOXP2

Recommendations for the husbandry and welfare of sheep and goats by the German Small Ruminant Veterinary Association. Part 1

Phenotypic spectrum associated with CASK loss-of-function mutations

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