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Publications by Matthias Braunisch
Compound Heterozygous SPATA5 Variants in Four Families and Functional Studies of SPATA5 Deficiency
European Journal of Human Genetics
Genetics
Related publications
No Evidence for Rare Recessive and Compound Heterozygous Disruptive Variants in Schizophrenia
European Journal of Human Genetics
Genetics
Epileptic Encephalopathy and Cerebellar Atrophy Resulting From Compound Heterozygous CACNA2D2 Variants
Case Reports in Genetics
Compound Heterozygous Novel Frameshift Variants in the PROM1 Gene Result in Leber Congenital Amaurosis
Cold Spring Harbor molecular case studies
Biochemistry
Molecular Medicine
Genetics
Familial Dilated Cardiomyopathy Associated With a Novel Combination of Compound Heterozygous TNNC1 Variants
Frontiers in Physiology
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Novel Compound Heterozygous TMEM67 Variants in a Vietnamese Family With Joubert Syndrome: A Case Report
BMC Medical Genetics
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Compound Heterozygous NEK1 Variants in Two Siblings With Oral-Facial-Digital Syndrome Type II (Mohr Syndrome)
European Journal of Human Genetics
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Novel Compound Heterozygous Variants in the LHCGR Gene in a Genetically Male Patient With Female External Genitalia
JCRPE Journal of Clinical Research in Pediatric Endocrinology
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
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
