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1.
Integrating nutrition and genetic counseling: A case study approach to interprofessional learning.
J Genet Couns
; 33(1): 244-249, 2024 02.
Article
in English
| MEDLINE | ID: mdl-38225907
2.
Telehealth genetic services during the COVID-19 Pandemic: Implementation and patient experiences across multiple specialties in Nebraska.
J Genet Couns
; 30(5): 1233-1243, 2021 10.
Article
in English
| MEDLINE | ID: mdl-34617357
3.
Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita.
Hum Mutat
; 40(12): 2270-2285, 2019 12.
Article
in English
| MEDLINE | ID: mdl-31206972
4.
Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization.
Brain
; 140(11): 2838-2850, 2017 Nov 01.
Article
in English
| MEDLINE | ID: mdl-29088354
5.
5q14.3 neurocutaneous syndrome: a novel continguous gene syndrome caused by simultaneous deletion of RASA1 and MEF2C.
Am J Med Genet A
; 155A(7): 1640-5, 2011 Jul.
Article
in English
| MEDLINE | ID: mdl-21626678
6.
Chromosome 22q11.2 deletion syndrome in African-American patients: a diagnostic challenge.
Am J Med Genet A
; 155A(9): 2186-95, 2011 Sep.
Article
in English
| MEDLINE | ID: mdl-21834039
7.
MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death.
Genome Med
; 8(1): 106, 2016 11 01.
Article
in English
| MEDLINE | ID: mdl-27799064
8.
Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder.
Nat Genet
; 47(8): 926-32, 2015 Aug.
Article
in English
| MEDLINE | ID: mdl-26168012
9.
Optic nerve enlargement in Krabbe disease: a pathophysiologic and clinical perspective.
J Child Neurol
; 26(5): 642-4, 2011 May.
Article
in English
| MEDLINE | ID: mdl-21285037
10.
Chiari I malformation, delayed gross motor skills, severe speech delay, and epileptiform discharges in a child with FOXP1 haploinsufficiency.
Eur J Hum Genet
; 18(11): 1216-20, 2010 Nov.
Article
in English
| MEDLINE | ID: mdl-20571508
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