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Publications by Julian A. Martinez-Agosto
Bi-Allelic TMEM94 Truncating Variants Are Associated With Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism
American Journal of Human Genetics
Genetics
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De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated With Mild Dysmorphism
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De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated With Mild Dysmorphism
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De Novo Variants in WDR37 Are Associated With Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia
American Journal of Human Genetics
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Gastrointestinal System Malformations in Children Are Associated With Congenital Heart Defects
Anadolu Kardiyoloji Dergisi/The Anatolian Journal of Cardiology
Heterozygous RFX6 Protein Truncating Variants Are Associated With MODY With Reduced Penetrance
Nature Communications
Astronomy
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Rare Variants in NR2F2 Cause Congenital Heart Defects in Humans
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OC11.01: * Why Congenital Heart Defects Are Being Missed
Ultrasound in Obstetrics and Gynecology
Nuclear Medicine
Radiology
Ultrasound Technology
Gynecology
Reproductive Medicine
Radiological
Imaging
Obstetrics
Medicine
Neurodevelopmental Abnormalities and Congenital Heart Disease
Circulation Research
Cardiovascular Medicine
Physiology
Cardiology
De Novo Truncating Variants in theAHDC1gene Encoding the AT-hook DNA-binding Motif-Containing Protein 1 Are Associated With Intellectual Disability and Developmental Delay
Cold Spring Harbor molecular case studies
Biochemistry
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