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Who gets dipyrone (metamizole) in Germany? Prescribing by age, sex and region

Journal of clinical pharmacy and therapeutics, 2015-06, Vol.40 (3), p.285-288

2015

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Concomitant Retroperitoneal and Subarachnoid Hemorrhage Due to Segmental Arterial Mediolysis: Case Report and Review of the Literature

Clinical neuroradiology (Munich), 2018-09, Vol.28 (3), p.445-450

2018

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Microcephalic osteodysplastic primordial dwarfism type I with biallelic mutations in the RNU4ATAC gene

Clinical genetics, 2012-08, Vol.82 (2), p.140-146

2012

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Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome

Clinical genetics, 2008-01, Vol.73 (1), p.62-70

2008

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Defining the phenotype in an autosomal recessive cutis laxa syndrome with a combined congenital defect of glycosylation

European journal of human genetics : EJHG, 2008-01, Vol.16 (1), p.28-35

2008

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Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome

Journal of medical genetics, 2006-05, Vol.43 (5), p.e22-e22

2006

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Concomitant Retroperitoneal and Subarachnoid Hemorrhage Due to Segmental Arterial Mediolysis

Clinical neuroradiology (Munich), 2018-09, Vol.28 (3), p.445-450

2018

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Location and type of mutation in the LIS1 gene do not predict phenotypic severity

Neurology, 2007-07, Vol.69 (5), p.442-447

2007

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Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP

Journal of medical genetics, 2002-07, Vol.39 (7), p.496-501

2002

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Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations

Journal of medical genetics, 2007-02, Vol.44 (2), p.131-135

2007

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Unexpected high frequency of de novo unbalanced translocations in patients with Wolf-Hirschhorn syndrome (WHS)

Journal of medical genetics, 2000-10, Vol.37 (10), p.798-804

2000

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Assignment of an autosomal sex reversa- locus ( SRA1 ) and campomelic dysplasia ( CMPD1 ) to 17q24.3-q25.1

Nature genetics, 1993-06, Vol.4 (2), p.170-174

1993

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Mutations of the Mitochondrial Holocytochrome c–Type Synthase in X-Linked Dominant Microphthalmia with Linear Skin Defects Syndrome

American journal of human genetics, 2006-11, Vol.79 (5), p.878-889

2006

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SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome

Journal of medical genetics, 2007-10, Vol.44 (10), p.651-656

2007

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The Kabuki (Niikawa-Kuroki) syndrome : further delineation of the phenotype in 29 non-Japanese patients

European journal of pediatrics, 1994-06, Vol.153 (6), p.438-445

1994

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Delineation of a contiguous gene syndrome with multiple exostoses, enlarged parietal foramina, craniofacial dysostosis, and mental retardation, caused by deletions on the short arm of chromosome 11

American journal of human genetics, 1996-04, Vol.58 (4), p.734-742

1996

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Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination

Nature genetics, 2000-06, Vol.25 (2), p.205-208

2000

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Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I

Nature genetics, 2000-01, Vol.24 (1), p.71-74

2000

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Microphthalmia with linear skin defects syndrome (MLS): a male with a mosaic paracentric inversion of Xp

Cytogenetic and Genome Research, 2002-01, Vol.99 (1-4), p.297-302

2002

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Genes and chromosomal breakpoints in the Langer-Giedion syndrome region on human chromosome 8

Human genetics, 1999-12, Vol.105 (6), p.619-628

1999

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Oculo-auriculo-vertebral spectrum (OAVS): clinical evaluation and severity scoring of 53 patients and proposal for a new classification

European journal of medical genetics, 2005-10, Vol.48 (4), p.397-411

2005

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Dysmorphology at a distance: results of a web-based diagnostic service

European journal of human genetics : EJHG, 2014-03, Vol.22 (3), p.327-332

2014

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Short stature, microcephaly, characteristic face, syndactyly and mental retardation: the Filippi syndrome. Report on a second family

Genetic counseling, 1993, Vol.4 (2), p.147

Meinecke, P

1993

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Orofaciodigital syndrome type IV (Mohr-Majewski syndrome) with severe expression expanding the known spectrum of anomalies

Journal of medical genetics, 1990-03, Vol.27 (3), p.200-202

1990

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Distinct Mutations in the Receptor Tyrosine Kinase Gene ROR2 Cause Brachydactyly Type B

American journal of human genetics, 2000-10, Vol.67 (4), p.822-831

2000

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Who gets dipyrone (metamizole) in Germany? Prescribing by age, sex and region

Concomitant Retroperitoneal and Subarachnoid Hemorrhage Due to Segmental Arterial Mediolysis: Case Report and Review of the Literature

Microcephalic osteodysplastic primordial dwarfism type I with biallelic mutations in the RNU4ATAC gene

Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome

Defining the phenotype in an autosomal recessive cutis laxa syndrome with a combined congenital defect of glycosylation

Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome

Concomitant Retroperitoneal and Subarachnoid Hemorrhage Due to Segmental Arterial Mediolysis

Location and type of mutation in the LIS1 gene do not predict phenotypic severity

Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP

Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations

Unexpected high frequency of de novo unbalanced translocations in patients with Wolf-Hirschhorn syndrome (WHS)

Assignment of an autosomal sex reversa- locus ( SRA1 ) and campomelic dysplasia ( CMPD1 ) to 17q24.3-q25.1

Mutations of the Mitochondrial Holocytochrome c–Type Synthase in X-Linked Dominant Microphthalmia with Linear Skin Defects Syndrome

SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome

The Kabuki (Niikawa-Kuroki) syndrome : further delineation of the phenotype in 29 non-Japanese patients

Delineation of a contiguous gene syndrome with multiple exostoses, enlarged parietal foramina, craniofacial dysostosis, and mental retardation, caused by deletions on the short arm of chromosome 11

Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination

Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I

Microphthalmia with linear skin defects syndrome (MLS): a male with a mosaic paracentric inversion of Xp

Genes and chromosomal breakpoints in the Langer-Giedion syndrome region on human chromosome 8

Oculo-auriculo-vertebral spectrum (OAVS): clinical evaluation and severity scoring of 53 patients and proposal for a new classification

Dysmorphology at a distance: results of a web-based diagnostic service

Short stature, microcephaly, characteristic face, syndactyly and mental retardation: the Filippi syndrome. Report on a second family

Orofaciodigital syndrome type IV (Mohr-Majewski syndrome) with severe expression expanding the known spectrum of anomalies

Distinct Mutations in the Receptor Tyrosine Kinase Gene ROR2 Cause Brachydactyly Type B

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