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Publications by Marijn F Stokman
Compound Heterozygous NEK1 Variants in Two Siblings With Oral-Facial-Digital Syndrome Type II (Mohr Syndrome)
European Journal of Human Genetics
Genetics
Related publications
Oral-Facial-Digital Syndrome 1 (OFD1)
Science-Business eXchange
Malformations of Cerebral Cortical Development in Oral-Facial-Digital Syndrome Type VI
American Journal of Neuroradiology
Medicine
Nuclear Medicine
Neurology
Imaging
Radiology
Novel Compound Heterozygous TMEM67 Variants in a Vietnamese Family With Joubert Syndrome: A Case Report
BMC Medical Genetics
Genetics
End Stage Renal Disease in a Child With Oral Facial Digital Syndrome
Journal of Nephropathology
Nephrology
Oto-Palato-Digital Syndrome, Type II
A Prenatally Diagnosed Case of Meckel-Gruber Syndrome With Novel Compound Heterozygous Pathogenic Variants in the TXNDC15 Gene
Molecular genetics & genomic medicine
Genetics
Molecular Biology
A Novel Compound Heterozygous Mutation of the AIRE Gene in a Patient With Autoimmune Polyendocrine Syndrome Type 1
Annals of Pediatric Endocrinology and Metabolism
Child Health
Endocrinology
Perinatology
Pediatrics
Metabolism
Diabetes
Siblings With Lethal Primary Pulmonary Hypoplasia and Compound Heterozygous Variants in the AARS2 Gene: Further Delineation of the Phenotypic Spectrum
Cold Spring Harbor molecular case studies
Biochemistry
Molecular Medicine
Genetics
Electrophysiolocal Findings in Mohr-Tranebjærg Syndrome
Revista Brasileira de Oftalmologia
Ophthalmology
Surgery
