Detalhe da pesquisa
1.
A family with limb girdle muscular dystrophy type 1B and multiple exostoses.
Clin Neuropathol;
38(5): 225-232, 2019.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31296281
2.
[Gastroparesis in Noonan syndrome]. / Gastroparese bei Noonan-Syndrom.
Z Gastroenterol;
55(2): 145-148, 2017 Feb.
Artigo
em Alemão
| MEDLINE
| ID: mdl-28192847
3.
Disturbed neuronal ER-Golgi sorting of unassembled glycine receptors suggests altered subcellular processing is a cause of human hyperekplexia.
J Neurosci;
35(1): 422-37, 2015 Jan 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25568133
4.
Buschke-Ollendorff-Syndrom mit einer neuartigen LEMD3-Mutation - Der Fall einer ungewöhnlichen Alopezie.
J Dtsch Dermatol Ges;
16(3): 348-350, 2018 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29537144
5.
Buschke-Ollendorff syndrome due to a novel LEMD3 mutation - an unusual case of alopecia.
J Dtsch Dermatol Ges;
16(3): 348-349, 2018 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29465813
6.
Mutational Spectrum of the ABCA12 Gene and Genotype-Phenotype Correlation in a Cohort of 64 Patients with Autosomal Recessive Congenital Ichthyosis.
Genes (Basel);
14(3)2023 03 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36980989
7.
Double-Hit Mutations in Bicuspid Aortic Valve and Blunt Traumatic Acute Aortic Dissection.
Ann Thorac Surg;
111(1): e5-e6, 2021 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32544455
8.
Novel MECP2 Mutation c.1162_1172del; p.Pro388* in Two Patients with Symptoms of Atypical Rett Syndrome.
Mol Syndromol;
10(4): 223-228, 2019 Jul.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31602196
9.
Novel Association of a Familial TGFBR1 Mutation in Loeys-Dietz Syndrome with Concomitant Hematologic Malignancy.
Korean J Thorac Cardiovasc Surg;
52(5): 376-379, 2019 Oct.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31624717
10.
Differentiation of MISSLA and Fanconi anaemia by computer-aided image analysis and presentation of two novel MISSLA siblings.
Eur J Hum Genet;
27(12): 1827-1835, 2019 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31320746
11.
Defining and expanding the phenotype of QARS-associated developmental epileptic encephalopathy.
Neurol Genet;
5(6): e373, 2019 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32042906
12.
Microcephaly, short stature, and limb abnormality disorder due to novel autosomal biallelic DONSON mutations in two German siblings.
Eur J Hum Genet;
26(9): 1282-1287, 2018 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29760432
13.
Prenatal diagnosis of hypoplastic left heart syndrome associated with Noonan Syndrome and de novo RAF1 mutation.
Prenat Diagn;
32(10): 1016-8, 2012 Oct.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22821648
14.
Transforming Growth Factor Beta-2 Mutations in Barlow's Disease and Aortic Dilatation.
Ann Thorac Surg;
104(1): e19-e21, 2017 Jul.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28633253
15.
Genetic abnormalities in bicuspid aortic valve root phenotype: preliminary results.
Eur J Cardiothorac Surg;
52(1): 156-162, 2017 Jul 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28387797
16.
Immunocytochemical localisation of plasma membrane GHRH receptors in human tumours using a novel anti-peptide antibody.
Eur J Cancer;
42(14): 2390-6, 2006 Sep.
Artigo
em Inglês
| MEDLINE
| ID: mdl-16904887
17.
Immunolocalization of full-length NK1 tachykinin receptors in human tumors.
J Histochem Cytochem;
54(9): 1015-20, 2006 Sep.
Artigo
em Inglês
| MEDLINE
| ID: mdl-16651388
18.
Immunocytochemical identification of low-affinity NTS2 neurotensin receptors in parietal cells of human gastric mucosa.
J Endocrinol;
191(1): 121-8, 2006 Oct.
Artigo
em Inglês
| MEDLINE
| ID: mdl-17065395
19.
Immunohistochemical detection of bombesin receptor subtypes GRP-R and BRS-3 in human tumors using novel antipeptide antibodies.
Virchows Arch;
449(4): 421-7, 2006 Oct.
Artigo
em Inglês
| MEDLINE
| ID: mdl-16967266
20.
Immunohistochemical localization of CCK1 cholecystokinin receptors in normal and neoplastic human tissues.
J Clin Endocrinol Metab;
90(11): 6149-55, 2005 Nov.
Artigo
em Inglês
| MEDLINE
| ID: mdl-16105969