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1.
Delayed diagnosis and racial bias in children with genetic conditions.
Am J Med Genet A
; 188(4): 1118-1123, 2022 04.
Article
in English
| MEDLINE | ID: mdl-35037400
2.
Nonlethal presentations of CYP26B1-related skeletal anomalies and multiple synostoses syndrome.
Am J Med Genet A
; 185(9): 2766-2775, 2021 09.
Article
in English
| MEDLINE | ID: mdl-34160123
3.
Rubinstein-Taybi syndrome in diverse populations.
Am J Med Genet A
; 182(12): 2939-2950, 2020 12.
Article
in English
| MEDLINE | ID: mdl-32985117
4.
Genotype-phenotype correlation at codon 1740 of SETD2.
Am J Med Genet A
; 182(9): 2037-2048, 2020 09.
Article
in English
| MEDLINE | ID: mdl-32710489
5.
Perinatal distress in 1p36 deletion syndrome can mimic hypoxic ischemic encephalopathy.
Am J Med Genet A
; 179(8): 1543-1546, 2019 08.
Article
in English
| MEDLINE | ID: mdl-31207089
6.
Cornelia de Lange syndrome in diverse populations.
Am J Med Genet A
; 179(2): 150-158, 2019 02.
Article
in English
| MEDLINE | ID: mdl-30614194
7.
Williams-Beuren syndrome in diverse populations.
Am J Med Genet A
; 176(5): 1128-1136, 2018 05.
Article
in English
| MEDLINE | ID: mdl-29681090
8.
Depiction of Haloa by Solomon Enos.
Am J Med Genet C Semin Med Genet
; 187(2): 265-268, 2021 06.
Article
in English
| MEDLINE | ID: mdl-33982419
9.
A pediatric case of acute myeloid leukemia with KMT2A gene rearrangement t(10;11) and 16p11.2 microdeletion syndrome.
Pediatr Blood Cancer
; 68(2): e28764, 2021 02.
Article
in English
| MEDLINE | ID: mdl-33058483
10.
Genotype-phenotype correlations in CPT1A deficiency detected by newborn screening in Pacific populations.
JIMD Rep
; 63(4): 322-329, 2022 Jul.
Article
in English
| MEDLINE | ID: mdl-35822099
11.
Utility of Genetic Testing for Confirmation of Abnormal Newborn Screening in Disorders of Long-Chain Fatty Acids: A Missed Case of Carnitine Palmitoyltransferase 1A (CPT1A) Deficiency.
Int J Neonatal Screen
; 3(2)2017 Jun.
Article
in English
| MEDLINE | ID: mdl-28748224
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