Detalhe da pesquisa
1.
Genomic signature of Fanconi anaemia DNA repair pathway deficiency in cancer.
Nature
; 612(7940): 495-502, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36450981
2.
Parental request for familial carrier testing in early childhood: The genetic counseling perspective.
Clin Genet
; 105(3): 262-272, 2024 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37994684
3.
Exploring genetic counselors' experiences with non-paternity in clinical settings.
J Genet Couns
; 2024 Feb 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38323428
4.
Genetic counseling student demographics: an empirical comparison of two cohorts.
J Genet Couns
; 30(1): 211-228, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32656903
5.
An exploration of novice genetic counselors' transitional challenges: Commencement is just the beginning.
J Genet Couns
; 28(4): 822-835, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31058408
6.
Comparable Outcomes after HLA-Matched Sibling and Alternative Donor Hematopoietic Cell Transplantation for Children with Fanconi Anemia and Severe Aplastic Anemia.
Biol Blood Marrow Transplant
; 24(4): 765-771, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29203412
7.
Phenotypic variability in patients with Fanconi anemia and biallelic FANCF mutations.
Am J Med Genet A
; 173(1): 260-263, 2017 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-27714961
8.
Paternal or Maternal Uniparental Disomy of Chromosome 16 Resulting in Homozygosity of a Mutant Allele Causes Fanconi Anemia.
Hum Mutat
; 37(5): 465-8, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26841305
9.
Genetic Counselors' Experiences Regarding Communication of Reproductive Risks with Autosomal Recessive Conditions found on Cancer Panels.
J Genet Couns
; 25(2): 359-72, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26454646
10.
Elevations in serum alpha fetoprotein levels in patients with Fanconi anaemia.
Br J Haematol
; 184(6): 1032-1035, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29676781
11.
Genetic counseling for Fanconi anemia: crosslinking disciplines.
J Genet Couns
; 23(6): 910-21, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25236480
12.
FANCA c.3624C>T (p.Ser1208=) is a hypomorphic splice variant associated with delayed onset of Fanconi anemia.
Blood Adv
; 8(4): 899-908, 2024 Feb 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-38191666
13.
"It's Just Flourishing Hope Everywhere": The Experiences of Incarcerated Men Sharing Their Stories.
Int J Offender Ther Comp Criminol
; 67(1): 34-52, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35670566
14.
A case series of adrenoleukodystrophy in children conceived through in vitro fertilization with an egg donor.
F S Rep
; 4(1): 24-28, 2023 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-36959964
15.
Erratum to: Genetic Counselors' Experiences Regarding Communication of Reproductive Risks with Autosomal Recessive Conditions found on Cancer Panels.
J Genet Couns
; 25(2): 412, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26626078
16.
The Power of Storytelling: The Experiences of Incarcerated Women Sharing Their Stories.
Int J Offender Ther Comp Criminol
; 62(15): 4814-4833, 2018 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-29978737
17.
Estradiol, SHBG and leptin interplay with food craving and intake across the menstrual cycle.
Physiol Behav
; 165: 304-12, 2016 10 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-27527001
18.
De novo truncating variants in the AHDC1 gene encoding the AT-hook DNA-binding motif-containing protein 1 are associated with intellectual disability and developmental delay.
Cold Spring Harb Mol Case Stud
; 1(1): a000562, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-27148574
19.
A homozygous frameshift variant in the KRT5 gene is compatible with life and results in severe recessive epidermolysis bullosa simplex.
JAAD Case Rep
; 5(7): 576-579, 2019 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-31312705
20.
Structural equation modeling of food craving across the menstrual cycle using behavioral, neuroendocrine, and metabolic factors.
Physiol Behav
; 195: 28-36, 2018 10 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30031087