Suchergebnisse - "Nguyen, Joanne"

PubPharm (43)

1

Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections

enthalten in: Genetics in medicine : official journal of the American College of Medical Genetics | 2024

von Jeffries, L. | Mis, E. | McWalter, K. | +149

2

Pediatric cancer incidence among individuals with overgrowth syndromes and overgrowth features : A population-based assessment in seven million children

enthalten in: Cancer | 2024

von Connolly, G. | Harris, R. | Shumate, C. | +6

3

Case report : Complete restoration of the HPA axis function in Cushing's disease with drug treatment

enthalten in: Frontiers in endocrinology | 2024

von Nguyen, J. | Ferrière, A. | Tabarin, A.

4

An epidemiologic study of penoscrotal transposition by maternal characteristics using data from the Texas birth defects registry

enthalten in: Birth defects research | 2024

von Allred, R. | Nguyen, J. | Agopian, A. | +2

5

Survival of neonates, infants, and children with birth defects : a population-based study in Texas, 1999-2018

enthalten in: Lancet regional health. Americas | 2023

von Benjamin, R. | Nguyen, J. | Canfield, M. | +2

6

Identifying syndromes in studies of structural birth defects : Guidance on classification and evaluation of potential impact

enthalten in: American journal of medical genetics. Part A | 2023

von Benjamin, R. | Mitchell, L. | Scheuerle, A. | +5

7

Probable drug-induced clitoral priapism due to potentiating effects of pregabalin and duloxetine

enthalten in: American journal of health-system pharmacy : AJHP : official journal of the American Society of Health-System Pharmacists | 2023

von Nguyen, J. | Chin, J. | Blalock, M.

8

Factors associated with nonsyndromic anotia and microtia, Texas, 1999-2014

enthalten in: Birth defects research | 2023

von Schraw, J. | Woodhouse, J. | Benjamin, R. | +5

9

Identifying syndromes in studies of structural birth defects : Guidance on classification and evaluation of potential impact

enthalten in: American Journal of Medical Genetics Part C: Seminars in Medical Genetics | 2023

von Benjamin, R. | Mitchell, L. | Scheuerle, A. | +5

10

Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits

enthalten in: bioRxiv.org | 2022

von Yuan, B. | Schulze, K. | Batzir, N. | +14

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