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C21orf2 variants causing inherited retinal disease: A review of what we know and a report of two new suspected cases

Clinical case reports, 2023-03, Vol.11 (3), p.e7110-n/a

2023

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Prenatal Bowel Findings in Male Siblings With a Confirmed FOXP3 Mutation

Journal of ultrasound in medicine, 2018-04, Vol.37 (4), p.1033-1037

2018

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Bietti’s crystalline dystrophy in an African American patient: an unusual racial demographic for a condition more common in individuals of East Asian descent

International journal of ophthalmology, 2021-08, Vol.14 (8), p.1291-1292

2021

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The demographics, clinical and molecular features of pediatric patients with retinitis pigmentosa due to variants in the EYS gene

Journal of AAPOS, 2021-08, Vol.25 (4), p.e27-e27

2021

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Corneal crystals as a presenting sign for smoldering multiple myeloma: a new case and literature review of this rare association

Molecular genetics and metabolism, 2021-04, Vol.132, p.S76

2021

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eP111 - Corneal crystals as a presenting sign for smoldering multiple myeloma: a new case and literature review of this rare association

Molecular genetics and metabolism, 2021-04, Vol.132, p.S76-S76

2021

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Occult Macular Dystrophy: a case report and major review

Ophthalmic genetics, 2022-10, Vol.43 (5), p.703-708

2022

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Reproductive endocrinologists' utilization of genetic counselors and their services: is there an unmet need?

Fertility and sterility, 2019-09, Vol.112 (3), p.e352-e352

2019

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Genotype-phenotype analysis of ocular findings in Rubinstein-Taybi syndrome - A case report and review of literature

Ophthalmic genetics, 2024-02, Vol.45 (1), p.51-58

2024

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Hereditary motor and sensory neuropathy type VIA with optic nerve pallor in two sisters with pathologic myopia: a case series and review

Ophthalmic genetics, 2023-08, Vol.44 (4), p.379-384

2023

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Hereditary motor and sensory neuropathy type VIa with optic atrophy in two sisters with pathologic myopia: a case series and review

Journal of AAPOS, 2021-08, Vol.25 (4), p.e28-e28

2021

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Chromosome 6p25 deletion syndrome: A case report and review of ophthalmic features

American journal of medical genetics. Part A, 2023-06, Vol.191 (6), p.1639-1645

2023

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THE ROLE OF GENETIC TESTING IN AVOIDING DIAGNOSTIC DELAYS IN INHERITED RETINAL DISEASE

Retinal cases & brief reports, 2023-04, Vol.18 (5), p.637-641

2023

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Resources Recommended for the Care of Pediatric Patients in Hospitals

Pediatrics (Evanston), 2020-04, Vol.145 (4), p.1

Ernst, Kimberly D

2020

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Physician's Role in Coordinating Care of Hospitalized Children

Pediatrics (Evanston), 2018-08, Vol.142 (2)

Rauch, Daniel A

2018

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Genotype-phenotype analysis of ocular findings in Rubinstein-Taybi syndrome - A case report and review of literature

Ophthalmic Genetics, 2023, Vol.ahead-of-print (ahead-of-print), p.1-8

2023

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Occult Macular Dystrophy: a case report and major review

Ophthalmic Genetics, 2022, Vol.43 (5), p.703-708

2022

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Hereditary motor and sensory neuropathy type VIA with optic nerve pallor in two sisters with pathologic myopia: a case series and review

Ophthalmic Genetics, 2023, Vol.44 (4), p.379-384

2023

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S(‐)‐Nornicotine Increases Dopamine Release in a Calcium‐Dependent Manner from Superfused Rat Striatal Slices

Journal of neurochemistry, 1993-06, Vol.60 (6), p.2167-2174

1993

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Prenatal Bowel Findings in Male Siblings With a Confirmed FOXP3 Mutation

Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine, 2018, Vol.37 (4), p.1033-1037

2018

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Localization of one gene for tuberous sclerosis within 9q32-9q34, and further evidence for heterogeneity

American journal of human genetics, 1991-10, Vol.49 (4), p.764-772

1991

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Strain differences in rat brain and liver σ binding: lack of cytochrome P450-2D1 involvement

European journal of pharmacology, 1993-10, Vol.243 (3), p.249-254

1993

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Molecular Genetics of Neurofibromatosis 2 and Related Tumors (Acoustic Neuroma and Meningioma)

Annals of the New York Academy of Sciences, 1991-04, Vol.615 (1), p.338-343

1991

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Acute and Chronic Effects of Losartan (Dup 753) on Blood Pressure and Vascular Reactivity in Normotensive Rats

Clinical and experimental hypertension (1993), 1993, Vol.15 (1), p.171-184

1993

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Parental origin of chromosome 22 loss in sporadic and NF2 neuromas

Genomics (San Diego, Calif.), 1991-05, Vol.10 (1), p.280-283

1991

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C21orf2 variants causing inherited retinal disease: A review of what we know and a report of two new suspected cases

Prenatal Bowel Findings in Male Siblings With a Confirmed FOXP3 Mutation

Bietti’s crystalline dystrophy in an African American patient: an unusual racial demographic for a condition more common in individuals of East Asian descent

The demographics, clinical and molecular features of pediatric patients with retinitis pigmentosa due to variants in the EYS gene

Corneal crystals as a presenting sign for smoldering multiple myeloma: a new case and literature review of this rare association

eP111 - Corneal crystals as a presenting sign for smoldering multiple myeloma: a new case and literature review of this rare association

Occult Macular Dystrophy: a case report and major review

Reproductive endocrinologists' utilization of genetic counselors and their services: is there an unmet need?

Genotype-phenotype analysis of ocular findings in Rubinstein-Taybi syndrome - A case report and review of literature

Hereditary motor and sensory neuropathy type VIA with optic nerve pallor in two sisters with pathologic myopia: a case series and review

Hereditary motor and sensory neuropathy type VIa with optic atrophy in two sisters with pathologic myopia: a case series and review

Chromosome 6p25 deletion syndrome: A case report and review of ophthalmic features

THE ROLE OF GENETIC TESTING IN AVOIDING DIAGNOSTIC DELAYS IN INHERITED RETINAL DISEASE

Resources Recommended for the Care of Pediatric Patients in Hospitals

Physician's Role in Coordinating Care of Hospitalized Children

Genotype-phenotype analysis of ocular findings in Rubinstein-Taybi syndrome - A case report and review of literature

Occult Macular Dystrophy: a case report and major review

Hereditary motor and sensory neuropathy type VIA with optic nerve pallor in two sisters with pathologic myopia: a case series and review

S(‐)‐Nornicotine Increases Dopamine Release in a Calcium‐Dependent Manner from Superfused Rat Striatal Slices

Prenatal Bowel Findings in Male Siblings With a Confirmed FOXP3 Mutation

Localization of one gene for tuberous sclerosis within 9q32-9q34, and further evidence for heterogeneity

Strain differences in rat brain and liver σ binding: lack of cytochrome P450-2D1 involvement

Molecular Genetics of Neurofibromatosis 2 and Related Tumors (Acoustic Neuroma and Meningioma)

Acute and Chronic Effects of Losartan (Dup 753) on Blood Pressure and Vascular Reactivity in Normotensive Rats

Parental origin of chromosome 22 loss in sporadic and NF2 neuromas

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