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1 .
Clinical features, molecular results, and management of 12 individuals with the rare arthrochalasia Ehlers‐Danlos syndrome
저자
by
Sandy Ayoub
;
Cecilia Giunta
;
Tomoki Kosho
;
Glenda Sobey
;
Neeti Ghali
, et al.
소스
American Journal of Medical Genetics Part A
. 182:994-1007
Web of Science
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7 .
Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies
저자
by
Lilia Maria de Azevedo Moreira
;
Joris A. Veltman
;
Anne Destree
;
Ercan Mihci
;
Banu Güzel Nur
, et al.
소스
PLoS Genetics
PLoS Genetics (online), 13(3):e1006683. Public Library of Science
PLoS genetics, 13(3). PUBLIC LIBRARY SCIENCE
Plos Genetics, 13, e1006683-e1006683
Plos Genetics, 13, 3, pp. e1006683-e1006683
PLoS Genetics, Vol 13, Iss 3, p e1006683 (2017)
PLOS Genetics
Open Access (OpenAIRE)
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7 .
Mutations in KCTD1 Cause Scalp-Ear-Nipple Syndrome
저자
by
Felecia E. Cerrato
;
Jeanne Amiel
;
Matthew S. Edwards
;
Deborah A. Nickerson
;
Anita E. Beck
, et al.
소스
The American Journal of Human Genetics
. 92:621-626
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7 .
Two novel patients with Bohring-Opitz syndrome caused by de novo ASXL1 mutations
저자
by
Patrizia Mongelli
;
Gioacchino Scarano
;
Eleonora Gambineri
;
Maria Luisa Giovannucci Uzielli
;
Marco Seri
, et al.
소스
American Journal of Medical Genetics Part A
. :917-921
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7 .
Clinical and molecular cytogenetic studies in ring chromosome 5: Report of a child with congenital abnormalities
저자
by
Manuela Priolo
;
Audrey Basinko
;
Marc De Braekeleer
;
Giuseppina Timpani
;
Gloria Scarselli
, et al.
소스
European Journal of Medical Genetics
. 55:112-116
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7 .
Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome
저자
by
Franscesca Forzano
;
Raoul C.M. Hennekam
;
Edward Blair
;
Alison H. Trainer
;
Sylvie Manouvrier
, et al.
소스
Journal of medical genetics, 47(1), 30-37. BMJ Publishing Group
Journal of Medical Genetics, 47(1), 30-37. BMJ Publishing Group
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7 .
De novo Mutations in NALCN Cause a Syndrome of Congenital Contractures of the Limbs and Face with Hypotonia, and Developmental Delay
저자
by
Cathy A. Stevens
;
Anita E. Beck
;
Nicola Foulds
;
Jessica X. Chong
;
Deborah A. Nickerson
, et al.
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7 .
Infrared fluorescent automated detection of thirteen short tandem repeat polymorphisms and one gender-determining system of the CODIS core system
저자
by
Sara Pelagatti
;
Laura Giunti
;
Valentina Lazzerini
;
Cristina Biondi
;
Manuela Lapini
, et al.
소스
Electrophoresis
. 21:3564-3570
Web of Science
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7 .
Dosage Effects of Cohesin Regulatory Factor PDS5 on Mammalian Development: Implications for Cohesinopathies
저자
by
David C. Beebe
;
Matthew A. Deardorff
;
Rakesh Kashyap
;
Dale Dorsett
;
Bin Zhang
, et al.
소스
PLoS ONE
PLoS ONE, Vol 4, Iss 5, p e5232 (2009)
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7 .
Identification of mutations in CUL7 in 3-M syndrome
저자
by
Valérie Cormier-Daire
;
James O'Sullivan
;
Nathalie Dagoneau
;
Gilles Morin
;
Wassim Chemaitilly
, et al.
소스
Nature genetics, 37(10), 1119-1124. Nature Publishing Group
Nature Genetics, 37, 1119-24
Nature Genetics, 37, 10, pp. 1119-24
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