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Publications by H Morbach

Severe Immune Dysregulation With Neurological Impairment and Minor Bone Changes in a Child With Spondyloenchondrodysplasia Due to Two Novel Mutations in the ACP5 Gene

Pediatric Rheumatology

English

Related publications

Early Neurological Impairment and Severe Anemia in a Newborn With Pearson Syndrome

European Journal of Pediatrics

English

Two Novel Mutations in the SLC25A4 Gene in a Patient With Mitochondrial Myopathy

English

Mutations in KARS Cause a Severe Neurological and Neurosensory Disease With Optic Neuropathy

Human Mutation

Genetics

2019

English

Extreme Short Stature and Severe Neurological Impairment in a 17-Year-Old Male With Untreated Combined Pituitary Hormone Deficiency Due to POU1F1 Mutation

Frontiers in Endocrinology

English

High Bone Mass Due to Novel LRP5 and AMER1 Mutations

European Journal of Medical Genetics

Medicine

Genetics

2017

English

Total C4B Deficiency Due to Gene Deletion and Gene Conversion in a Patient With Severe Infections

Clinical Diagnostic Laboratory Immunology

2003

English

Two Novel Mutations of the CYP11B2 Gene in a Japanese Patient With Aldosterone Deficiency Type 1

English

Late Onset MLD With Normal Nerve Conduction Associated With Two Novel Missense Mutations in the ASA Gene

Journal of Neurology, Neurosurgery and Psychiatry

English

Occipital Cortex Dysgenesis With White Matter Changes Due to Mutations in Laminin A2

Turkish Journal of Pediatrics

English

Amanote Research

Discover open access scientific publications

Search, annotate, share and cite publications

Publications by H Morbach

Severe Immune Dysregulation With Neurological Impairment and Minor Bone Changes in a Child With Spondyloenchondrodysplasia Due to Two Novel Mutations in the ACP5 Gene

Related publications

Early Neurological Impairment and Severe Anemia in a Newborn With Pearson Syndrome

Two Novel Mutations in the SLC25A4 Gene in a Patient With Mitochondrial Myopathy

Mutations in KARS Cause a Severe Neurological and Neurosensory Disease With Optic Neuropathy

Extreme Short Stature and Severe Neurological Impairment in a 17-Year-Old Male With Untreated Combined Pituitary Hormone Deficiency Due to POU1F1 Mutation

High Bone Mass Due to Novel LRP5 and AMER1 Mutations

Total C4B Deficiency Due to Gene Deletion and Gene Conversion in a Patient With Severe Infections

Two Novel Mutations of the CYP11B2 Gene in a Japanese Patient With Aldosterone Deficiency Type 1

Late Onset MLD With Normal Nerve Conduction Associated With Two Novel Missense Mutations in the ASA Gene

Occipital Cortex Dysgenesis With White Matter Changes Due to Mutations in Laminin A2