Search details
1.
Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt.
Am J Hum Genet
; 111(3): 487-508, 2024 Mar 07.
Article
in English
| MEDLINE | ID: mdl-38325380
2.
Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1.
Hum Mutat
; 41(1): 299-315, 2020 01.
Article
in English
| MEDLINE | ID: mdl-31595648
3.
Liver failure and x-linked immunodeficiency type 47.
Pediatr Transplant
; 24(8): e13808, 2020 12.
Article
in English
| MEDLINE | ID: mdl-32790950
4.
Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.
Genet Med
; 21(3): 764-765, 2019 03.
Article
in English
| MEDLINE | ID: mdl-30275510
5.
Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.
Genet Med
; 21(4): 867-876, 2019 04.
Article
in English
| MEDLINE | ID: mdl-30190611
6.
Inactivation of AMMECR1 is associated with growth, bone, and heart alterations.
Hum Mutat
; 39(2): 281-291, 2018 02.
Article
in English
| MEDLINE | ID: mdl-29193635
7.
Cyanosis in a Previously Well Child.
Pediatr Rev
; 42(11): 619-624, 2021 Nov.
Article
in English
| MEDLINE | ID: mdl-34725222
8.
Early therapy-related myeloid sarcoma and deletion of 9q22.32 to q31.1.
Pediatr Blood Cancer
; 61(9): 1701-3, 2014 Sep.
Article
in English
| MEDLINE | ID: mdl-24668947
9.
Molecular mechanics and dynamic simulations of well-known Kabuki syndrome-associated KDM6A variants reveal putative mechanisms of dysfunction.
Orphanet J Rare Dis
; 16(1): 66, 2021 02 05.
Article
in English
| MEDLINE | ID: mdl-33546721
10.
Adaptive Behavior and Executive Functioning in Children with Neurofibromatosis Type 1 Using a Mixed Design.
J Dev Behav Pediatr
; 41(8): 637-643, 2020.
Article
in English
| MEDLINE | ID: mdl-33064400
11.
Inheritance of a Balanced t(12;20)(q24.33;p12.2) and Unbalanced der(13)t(7;13)(p21.3;q33.2) from a Maternally Derived Double Balanced Translocation Carrier.
J Pediatr Genet
; 7(1): 35-39, 2018 Mar.
Article
in English
| MEDLINE | ID: mdl-29441220
12.
A Rare Combination of Functional Disomy Xp, Deletion Xq13.2-q28 Spanning the XIST Gene, and Duplication 3q25.33-q29 in a Female with der(X)t(X;3)(q13.2;q25.33).
J Pediatr Genet
; 7(1): 23-28, 2018 Mar.
Article
in English
| MEDLINE | ID: mdl-29441218
13.
Analyzing the Genetic Spectrum of Vascular Anomalies with Overgrowth via Cancer Genomics.
J Invest Dermatol
; 138(4): 957-967, 2018 04.
Article
in English
| MEDLINE | ID: mdl-29174369
14.
Mosaic Trisomy 9p in a Patient with Mild Dysmorphic Features and Normal Intelligence.
J Assoc Genet Technol
; 43(2): 56-58, 2017.
Article
in English
| MEDLINE | ID: mdl-28511170
15.
Correction to: Molecular mechanics and dynamic simulations of well-known Kabuki syndrome-associated KDM6A variants reveal putative mechanisms of dysfunction.
Orphanet J Rare Dis
; 16(1): 247, 2021 Jun 01.
Article
in English
| MEDLINE | ID: mdl-34074320
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