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1 . Periodical
Heterozygous rare variants in NR2F2cause a recognizable multiple congenital anomaly syndrome with developmental delays
저자
by
Ganapathi, Mythily
;
Matsuoka, Leticia S.
;
March, Michael
;
Li, Dong
;
Brokamp, Elly
, et al.
소스
European Journal of Human Genetics: EJHG; October 2023, Vol. 31 Issue: 10 p1117-1124, 8p
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7 . Academic Journal
Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays
저자
by
Ganapathi, Mythily
;
Matsuoka, Leticia S.
;
March, Michael
;
Li, Dong
;
Brokamp, Elly
, et al.
소스
European Journal of Human Genetics
. 31(10):1117-1124
Web of Science
Scopus
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7 . Academic Journal
Novel variant in HHAT as a cause of different sex development with partial gonadal dysgenesis associated with microcephaly, eye defects, and distal phalangeal hypoplasia of both thumbs: Case report.
저자
by
Baz-Redón, Noelia
;
Soler-Colomer, Laura
;
Fernández-Cancio, Mónica
;
Benito-Sanz, Sara
;
Garrido, Marta
, et al.
소스
Frontiers in Endocrinology; 10/11/2022, Vol. 13, p1-8, 8p
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7 . Academic Journal
High prevalence of variants in skeletal dysplasia associated genes in individuals with short stature and minor skeletal anomalies.
저자
by
Sentchordi-Montané, Lucía
;
Benito-Sanz, Sara
;
Aza-Carmona, Miriam
;
Díaz-González, Francisca
;
Modamio-Høybjør, Silvia
, et al.
소스
European Journal of Endocrinology
. Nov2021, Vol. 185 Issue 5, p691-705. 15p.
Full Text (OUP)
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7 . Academic Journal
Clinical and Molecular Description of 16 Families With Heterozygous IHH Variants.
저자
by
Sentchordi-Montané, Lucía
;
Benito-Sanz, Sara
;
Aza-Carmona, Miriam
;
Pereda, Arrate
;
Parrón-Pajares, Manuel
, et al.
소스
Journal of Clinical Endocrinology & Metabolism; Aug2020, Vol. 105 Issue 8, p1-13, 13p
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7 . Academic Journal
Identification of the first de novo PAR1 deletion downstream of SHOX in an individual diagnosed with Léri–Weill dyschondrosteosis (LWD)
저자
by
Barroso, Eva
;
Benito-Sanz, Sara
;
Belinchón, Alberta
;
Yuste-Checa, Patricia
;
Gracia, Ricardo
, et al.
소스
In
European Journal of Medical Genetics
2010 53(4):204-207
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7 . Periodical
Molecular Basis of CYP19A1 Deficiency in a 46,XX Patient With R550W Mutation in POR: Expanding the PORD Phenotype
저자
by
Parween, Shaheena
;
Fernández-Cancio, Mónica
;
Benito-Sanz, Sara
;
Camats, Núria
;
Rojas Velazquez, Maria Natalia
, et al.
소스
The Journal of Clinical Endocrinology & Metabolism; April 2020, Vol. 105 Issue: 4 pe1272-e1290, 19p
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7 . Academic Journal
A Novel Homozygous AMRH2 Gene Mutation in a Patient with Persistent Müllerian Duct Syndrome.
저자
by
Fernández-Cancio, Mónica
;
Viswanath, Naveen
;
Puzhankara, Ramakrishnan
;
Valiyaprambil Pavithran, Praveen
;
Mora-Palma, Cristina
, et al.
소스
Sexual Development
. Mar2019, Vol. 13 Issue 2, p87-91. 5p.
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7 . Academic Journal
Heterozygous aggrecan variants are associated with short stature and brachydactyly: Description of 16 probands and a review of the literature.
저자
by
Sentchordi‐Montané, Lucía
;
Aza‐Carmona, Miriam
;
Benito‐Sanz, Sara
;
Barreda‐ Bonis, Ana C.
;
Sánchez‐Garre, Consuelo
, et al.
소스
Clinical Endocrinology
. Jun2018, Vol. 88 Issue 6, p820-829. 10p. 1 Diagram, 5 Charts.
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7 . Periodical
Mutations in C-natriuretic peptide (NPPC): a novel cause of autosomal dominant short stature
저자
by
Hisado-Oliva, Alfonso
;
Ruzafa-Martin, Alba
;
Sentchordi, Lucia
;
Funari, Mariana F A
;
Bezanilla-López, Carolina
, et al.
소스
Genetics in Medicine; January 2018, Vol. 20 Issue: 1 p91-97, 7p
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