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American Journal of Medical Genetics. Part A
|
March 25, 2020
Congenital hypothyroidism, cardiac defects, and pancreatic agenesis in an infant with GATA6 mutation
Nikhil Raghuram, Ashish Marwaha, Mary-Louise C Greer, et al.
Prenatal Diagnosis
|
January 17, 2019
Prenatal detection of isolated bilateral hyperechogenic kidneys: Etiologies and outcomes
Shirley Shuster, Johannes Keunen, Patrick Shannon, et al.
Cells
|
July 27, 2022
Functional Expression of Multidrug-Resistance (MDR) Transporters in Developing Human Fetal Brain Endothelial Cells
Phetcharawan Lye, Enrrico Bloise, Guinever E Imperio, et al.
Pediatric Nephrology (Berlin, Germany)
|
September 19, 2019
Helping nephrologists find answers: hyperinsulinism and tubular dysfunction: Answers
Laura Betcherman, Mathieu Lemaire, Christoph Licht, et al.
American Journal of Human Genetics
|
October 24, 2003
Replication inhibitors modulate instability of an expanded trinucleotide repeat at the myotonic dystrophy type 1 disease locus in human cells
Zhi Yang, Rachel Lau, Julien L Marcadier, et al.
Journal of Child Neurology
|
April 17, 2025
Interests and Experiences of Young Adults with Muscular Dystrophy in Receiving Genetic Information
Leah Hammond, Christina Ippolito, Kimberly Amburgey, et al.
Prenatal Diagnosis
|
December 15, 2018
Abnormal fetal cerebral and vascular development in hypoplastic left heart syndrome
Caroline Kinnear, Maruti Haranal, Patrick Shannon, et al.
Prenatal Diagnosis
|
July 7, 2016
Prenatal presentation of hereditary hemorrhagic telangiectasia - a report of two sibs
Maha Saleh, Ioana Miron, Hadeel Al-Rukban, et al.
AJP Reports
|
November 2, 2020
Fetal Macrocephaly: A Novel Sonographic Finding in Congenital Myotonic Dystrophy
Shiri Shinar, Parry Balakumar, Vibhuti Shah, et al.
Prenatal Diagnosis
|
March 20, 2024
Prenatal diagnosis of ROR-2 related Robinow syndrome presenting with fetal ultrasound findings of mesomelia, vertebral, digital and genital abnormalities
Liying Yang, Patrick Shannon, Rachel Silver, et al.
Page
of 36
Search research articles
Search
Showing results (61-70 of 352) with videos related to
Sort By:
Page
of 36
American Journal of Medical Genetics. Part A
|
March 25, 2020
Congenital hypothyroidism, cardiac defects, and pancreatic agenesis in an infant with GATA6 mutation
Nikhil Raghuram, Ashish Marwaha, Mary-Louise C Greer, et al.
Prenatal Diagnosis
|
January 17, 2019
Prenatal detection of isolated bilateral hyperechogenic kidneys: Etiologies and outcomes
Shirley Shuster, Johannes Keunen, Patrick Shannon, et al.
Cells
|
July 27, 2022
Functional Expression of Multidrug-Resistance (MDR) Transporters in Developing Human Fetal Brain Endothelial Cells
Phetcharawan Lye, Enrrico Bloise, Guinever E Imperio, et al.
Pediatric Nephrology (Berlin, Germany)
|
September 19, 2019
Helping nephrologists find answers: hyperinsulinism and tubular dysfunction: Answers
Laura Betcherman, Mathieu Lemaire, Christoph Licht, et al.
American Journal of Human Genetics
|
October 24, 2003
Replication inhibitors modulate instability of an expanded trinucleotide repeat at the myotonic dystrophy type 1 disease locus in human cells
Zhi Yang, Rachel Lau, Julien L Marcadier, et al.
Journal of Child Neurology
|
April 17, 2025
Interests and Experiences of Young Adults with Muscular Dystrophy in Receiving Genetic Information
Leah Hammond, Christina Ippolito, Kimberly Amburgey, et al.
Prenatal Diagnosis
|
December 15, 2018
Abnormal fetal cerebral and vascular development in hypoplastic left heart syndrome
Caroline Kinnear, Maruti Haranal, Patrick Shannon, et al.
Prenatal Diagnosis
|
July 7, 2016
Prenatal presentation of hereditary hemorrhagic telangiectasia - a report of two sibs
Maha Saleh, Ioana Miron, Hadeel Al-Rukban, et al.
AJP Reports
|
November 2, 2020
Fetal Macrocephaly: A Novel Sonographic Finding in Congenital Myotonic Dystrophy
Shiri Shinar, Parry Balakumar, Vibhuti Shah, et al.
Prenatal Diagnosis
|
March 20, 2024
Prenatal diagnosis of ROR-2 related Robinow syndrome presenting with fetal ultrasound findings of mesomelia, vertebral, digital and genital abnormalities
Liying Yang, Patrick Shannon, Rachel Silver, et al.
Page
of 36