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Publications by Monica Konstantino

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
BiochemistryMolecular MedicineGenetics
2019English

A Novel Pathogenic UGT1A1 Variant in a Sudanese Child With Type I Crigler-Najjar Syndrome

Drug Metabolism and Disposition
PharmacologyPharmaceutical Science
2018English

Related publications

Novel Homozygous RARS2 Mutation in Two Siblings Without Pontocerebellar Hypoplasia – Further Expansion of the Phenotypic Spectrum

Orphanet Journal of Rare Diseases
MedicineGeneticsPharmacology
2016English

Compound Heterozygous NEK1 Variants in Two Siblings With Oral-Facial-Digital Syndrome Type II (Mohr Syndrome)

European Journal of Human Genetics
Genetics
2016English

Corrigendum: Compound Heterozygous Variants in the Coiled-Coil Domain Containing 40 Gene in a Chinese Family With Primary Ciliary Dyskinesia Cause Extreme Phenotypic Diversity in Cilia Ultrastructure

Frontiers in Genetics
GeneticsMolecular Medicine
2018English

Compound Heterozygous Novel Frameshift Variants in the PROM1 Gene Result in Leber Congenital Amaurosis

Cold Spring Harbor molecular case studies
BiochemistryMolecular MedicineGenetics
2019English

Primary Pulmonary Hypoplasia

2020English

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 HealthEndocrinologyPerinatologyPediatricsMetabolismDiabetes
2019English

P13.03: Pulmonary Artery Waveforms Preceding Lethal Pulmonary Hypoplasia: The “Flash Sign”

Ultrasound in Obstetrics and Gynecology
Nuclear MedicineRadiologyUltrasound TechnologyGynecologyReproductive MedicineRadiologicalImagingObstetricsMedicine
2018English

A Prenatally Diagnosed Case of Meckel-Gruber Syndrome With Novel Compound Heterozygous Pathogenic Variants in the TXNDC15 Gene

Molecular genetics & genomic medicine
GeneticsMolecular Biology
2019English

Mild Form of Oculocutaneous Albinism Type 1: Phenotypic Analysis of Compound Heterozygous Patients With the R402Q Variant of the TYR Gene

British Journal of Ophthalmology
Molecular NeuroscienceOphthalmologySensory SystemsCellular
2018English

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