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1.
Mapping of breakpoints in balanced chromosomal translocations by shallow whole-genome sequencing points to EFNA5, BAHD1 and PPP2R5E as novel candidates for genes causing human Mendelian disorders.
J Med Genet
; 56(2): 104-112, 2019 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-30352868
2.
11p15 duplication and 13q34 deletion with Beckwith-Wiedemann syndrome and factor VII deficiency.
Pediatr Int
; 57(3): 486-91, 2015 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-26012727
3.
Trends in prenatal diagnosis of non-specific multiple malformations disorders with reference to the own experience and research study on Smith-Lemli-Opitz syndrome.
Ginekol Pol
; 86(8): 598-602, 2015 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-26492708
4.
The first case of a patient with de novo partial distal 16q tetrasomy and a data's review.
Am J Med Genet A
; 164A(10): 2541-50, 2014 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-25111638
5.
1.15 Mb microdeletion in chromosome band 20p13 associated with moderate developmental delay-additional case and data's review.
Am J Med Genet A
; 161A(1): 172-8, 2013 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-23165892
6.
Additional data on the clinical phenotype of Helsmoortel-Van der Aa syndrome associated with a novel truncating mutation in ADNP gene.
Am J Med Genet A
; 170(6): 1647-50, 2016 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-27031564
7.
The phenotype-driven computational analysis yields clinical diagnosis for patients with atypical manifestations of known intellectual disability syndromes.
Mol Genet Genomic Med
; 8(9): e1263, 2020 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-32337850
8.
Breakpoint Mapping of Symptomatic Balanced Translocations Links the EPHA6, KLF13 and UBR3 Genes to Novel Disease Phenotype.
J Clin Med
; 9(5)2020 Apr 25.
Artículo
en Inglés
| MEDLINE | ID: mdl-32344861
9.
Structural features of the Cu(2+)-vancomycin complex.
J Inorg Biochem
; 102(4): 936-42, 2008 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-18255151
10.
Minimal clinical findings in a patient with 15qter microdeletion syndrome: delineation of the associated phenotype.
Am J Med Genet A
; 158A(4): 922-6, 2012 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-22344789
11.
Malan syndrome (Sotos syndrome 2) in two patients with 19p13.2 deletion encompassing NFIX gene and novel NFIX sequence variant.
Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub
; 160(1): 161-7, 2016 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-26927468
12.
Oculocutaneous albinism in a patient with 17p13.2-pter duplication - a review on the molecular syndromology of 17p13 duplication.
Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub
; 159(2): 333-7, 2015 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-25690523
13.
History and molecular characteristics of a patient with terminal deletion of 14q. Is this another syndrome with a striking phenotype?
Clin Dysmorphol
; 21(2): 97-100, 2012 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-22391620
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