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1 . Academic Journal
Clinically relevant variants in a large cohort of Indian patients with Marfan syndrome and related disorders identified by next-generation sequencing
저자
by
Shalini S. Nayak
;
Pauline E. Schneeberger
;
Siddaramappa J. Patil
;
Karegowda M. Arun
;
Pujar V. Suresh
, et al.
소스
Scientific Reports, Vol 11, Iss 1, Pp 1-13 (2021)
Open Access (DOAJ)
Web of Science
Scopus
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7 .
Early and severe tricuspid valve dysplasia in a fetus with cardiospondylocarpofacial syndrome due to a variant c.616T>G p.(Tyr206Asp) in MAP3K7
저자
by
Subrahmanya Vasishta
;
Akkatai S. Teli
;
Akhila Vasudeva
;
Katta M. Girisha
;
Shalini S. Nayak
.
소스
Prenatal Diagnosis
.
Scopus
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7 .
A novel biallelic variant c.
2219T
> A p.(Leu740*) in
ADGRG6
as a cause of lethal congenital contracture syndrome 9
저자
by
Mangalore S. Shravya
;
Mary Mathew
;
Akhila Vasudeva
;
Katta M. Girisha
;
Shalini S. Nayak
.
소스
Clinical Genetics
. 103:127-129
Web of Science
Scopus
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7 .
Deep intronic mutation in CRTAP results in unstable isoforms of the protein to induce type I collagen aggregation in a lethal type of osteogenesis imperfecta type VII
저자
by
Prajna Udupa
;
Akshaykumar Nanaji Shrikondawar
;
Shalini S. Nayak
;
Hitesh Shah
;
Akash Ranjan
, et al.
소스
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
. 1869:166741
Web of Science
Scopus
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7 .
Clinically diverse and perinatally lethal syndromes with urorectal septum malformation sequence
저자
by
Shalini S. Nayak
;
Robert Harkness
;
Anju Shukla
;
Siddharth Banka
;
William G. Newman
, et al.
소스
American journal of medical genetics. Part AREFERENCES
.
Scopus
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7 .
Roberts syndrome in an Indian patient with humeroradial synostosis, congenital elbow contractures and a novel homozygous splice variant in ESCO2
저자
by
Kerstin Kutsche
;
Shalini S. Nayak
;
Pauline E. Schneeberger
;
Sigrid Fuchs
;
Katta M. Girisha
.
소스
American Journal of Medical Genetics Part A
. 182:2793-2796
Open Access (OpenAIRE)
Web of Science
Scopus
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7 .
Expanding the spectrum of syndromic PPP2R3C-related XY gonadal dysgenesis to XX gonadal dysgenesis
저자
by
Nathalie Escande-Beillard
;
Ingo Kennerknecht
;
Umut Altunoglu
;
Katta M. Girisha
;
Shalini S. Nayak
, et al.
소스
Clinical geneticsREFERENCES
. 101(2)
Scopus
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7 .
Author response for 'Expanding the spectrum of syndromic PPP2R3C ‐related XY gonadal dysgenesis to XX gonadal dysgenesis'
저자
by
Shalini S. Nayak
;
Serpil Eraslan
;
Hülya Kayserili
;
Ingo Kennerknecht
;
Hülya Azaklı
, et al.
소스
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7 .
Biallelic c.1263dupC in DOK7 results in fetal akinesia deformation sequence
저자
by
Periyasamy Radhakrishnan
;
Katta M. Girisha
;
Shalini S. Nayak
;
Anju Shukla
.
소스
American Journal of Medical Genetics Part A
. 182:804-807
Web of Science
Scopus
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6 .
Meckel syndrome: Clinical and mutation profile in six fetuses
저자
by
Katta M. Girisha
;
Periyasamy Radhakrishnan
;
Anju Shukla
;
Shalini S. Nayak
;
Anna Lindstrand
.
소스
Clinical Genetics
. 96:560-565
Web of Science
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