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Publications by Silke Reif

A Novel R486Q Mutation in BMPR1B Resulting in Either a Brachydactyly Type C/Symphalangism-Like Phenotype or Brachydactyly Type A2

European Journal of Human Genetics
Genetics
2006English

Related publications

Brachydactyly Type A4

2020English

Mutations in HOXD13 Underlie Syndactyly Type v and a Novel Brachydactyly-Syndactyly Syndrome

American Journal of Human Genetics
Genetics
2007English

Coloboma of Macula-Brachydactyly Type B Syndrome

2020English

Duplication of PTHLH Causes Osteochondroplasia With a Combined Brachydactyly Type E/A1 Phenotype With Disturbed Bone Maturation and Rhizomelia

European Journal of Human Genetics
Genetics
2016English

A Case of Hereditary Brachydactyly

BMJ
1908English

Temtamy Preaxial Brachydactyly Syndrome

2020English

Brachydactyly-Nystagmus-Cerebellar Ataxia Syndrome

2020English

Brachydactyly-Arterial Hypertension Syndrome

2020English

Liebenberg Syndrome: Brachydactyly With Joint Dysplasia (MIM 186550): A Second Family

Journal of Medical Genetics
Genetics
2000English

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