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1 . Academic Journal
P431: Respiratory distress in the setting of a right diaphragmatic eventration in a newborn with a pathogenic FLNA gene variant
저자
by
Fraustro, Milena
;
Badino, Maria
;
Rodriguez, Andres
;
Bauer, Mislen
.
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Genetics in Medicine Open
2024 2 Supplement 1
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6 . Academic Journal
P362: Chromosomal 7p deletion associated with Saethre-Chotzen syndrome
저자
by
Fraustro, Milena
;
Badino, Maria
;
Bauer, Mislen
.
소스
In
Genetics in Medicine Open
2024 2 Supplement 1
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5 . Academic Journal
P365: Muenke syndrome associated with juvenile polyposis syndrome
저자
by
Iglesias, Anais
;
Fraustro, Milena
;
Bauer, Mislen
;
Rodriguez Barreto, Ana Maria
.
소스
In
Genetics in Medicine Open
2024 2 Supplement 1
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6 . Academic Journal
Ophthalmic findings in Frank-ter Haar syndrome: report of a sibling pair
저자
by
Chang, Ta C.
;
Bauer, Mislen
;
Puerta, Herminia S.
;
Greenberg, Matthew B.
;
Cavuoto, Kara M.
.
소스
In
Journal of AAPOS
December 2017 21(6):514-516
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7 . Academic Journal
Gingivosupraperiosteoplasty following Presurgical Maxillary Orthopedics Is Associated with Normal Midface Growth in Complete Unilateral and Bilateral Cleft Patients at Mixed Dentition.
저자
by
Mejia, Martha
;
Wolfe, Erin M.
;
Murphy, Blake D.
;
Rothenberg, Leonard
;
Tejero, Ana
, et al.
소스
Plastic & Reconstructive Surgery; Dec2021, Vol. 148 Issue 6, p1335-1346, 12p
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7 . Academic Journal
Gastric Adenocarcinoma and Proximal Polyposis of the Stomach in a Hispanic Pediatric Patient With APC Gene Variant c.-191T>G
저자
by
Roberts, Annette Gawron
;
Bujarska, Malgorzata
;
Bauer, Mislen
;
Brathwaite, Carole
;
Pelaez, Liset
, et al.
소스
JPGN Reports
. Nov 01, 2021 2(4):e123-e123
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7 . Academic Journal
A novel FAM20C mutation causes a rare form of neonatal lethal Raine syndrome.
저자
by
Hung, Christina Y.
;
Rodriguez, Mario
;
Roberts, Abra
;
Bauer, Mislen
;
Mihalek, Ivana
, et al.
소스
American Journal of Medical Genetics. Part A; Sep2019, Vol. 179 Issue 9, p1866-1871, 6p
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7 . Academic Journal
Individual heat map assessments demonstrate vestronidase alfa treatment response in a highly heterogeneous mucopolysaccharidosis VII study population.
저자
by
Haller, Christine
;
Song, Wenjie
;
Cimms, Tricia
;
Chen, Chao‐Yin
;
Whitley, Chester B.
, et al.
소스
Journal of Inherited Metabolic Disease Reports; Sep2019, Vol. 49 Issue 1, p53-62, 10p
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7 . Academic Journal
A novel Blind Start study design to investigate vestronidase alfa for mucopolysaccharidosis VII, an ultra-rare genetic disease.
저자
by
Harmatz, Paul
;
Whitley, Chester B.
;
Wang, Raymond Y.
;
Bauer, Mislen
;
Song, Wenjie
, et al.
소스
Molecular Genetics & Metabolism
. Apr2018, Vol. 123 Issue 4, p488-494. 7p.
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7 . Report
Neonatal diagnosis of a patient with hypoparathyroidism, sensorineural deafness and renal dysplasia (HDR) syndrome associated with cerebral infarction
저자
by
Mejia, Juan Diego
;
Cervantes, Luisa
;
Puerta, Herminia
;
Bauer, Mislen
;
Diaz, Alejandro
.
소스
Journal of Pediatric Endocrinology and Metabolism
. 27(9-10):961-965
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