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1 . Academic Journal
Null and missense mutations of ERI1 cause a recessive phenotypic dichotomy in humans
저자
by
Guo, Long
;
Salian, Smrithi
;
Xue, Jing-yi
;
Rath, Nicola
;
Rousseau, Justine
, et al.
소스
In
The American Journal of Human Genetics
6 July 2023 110(7):1068-1085
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7 . Academic Journal
Brothers with novel compound heterozygous mutations in COL27A1 causing dental and genital abnormalities
저자
by
Satoh, Chisei
;
Kondoh, Tatsuro
;
Shimizu, Hitomi
;
Kinoshita, Akira
;
Mishima, Hiroyuki
, et al.
소스
In
European Journal of Medical Genetics
February 2021 64(2)
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7 . Academic Journal
Unique skeletal manifestations in patients with Primrose syndrome
저자
by
Arora, Veronica
;
Leon, Eyby
;
Diaz, Jullianne
;
Hove, Hanne Buciek
;
Carvalho, Daniel Rocha
, et al.
소스
In
European Journal of Medical Genetics
August 2020 63(8)
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7 . Academic Journal
Heterotopic ossifications and Charcot joints: Congenital insensitivity to pain with anhidrosis (CIPA) and a novel NTRK1 gene mutation
저자
by
Gucev, Zoran
;
Tasic, Velibor
;
Bogevska, Ivona
;
Laban, Nevenka
;
Saveski, Alek
, et al.
소스
In
European Journal of Medical Genetics
January 2020 63(1)
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7 . Academic Journal
A novel NKX3-2 mutation associated with perinatal lethal phenotype of spondylo-megaepiphyseal-metaphyseal dysplasia in a neonate
저자
by
Simsek-Kiper, Pelin Ozlem
;
Kosukcu, Can
;
Akgun-Dogan, Ozlem
;
Gocmen, Rahsan
;
Utine, Gulen Eda
, et al.
소스
In
European Journal of Medical Genetics
January 2019 62(1):21-26
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7 . Academic Journal
Novel compound heterozygous mutations identified by whole exome sequencing in a Japanese patient with geroderma osteodysplastica
저자
by
Takeda, Ryojun
;
Takagi, Masaki
;
Shinohara, Hiroyuki
;
Futagawa, Hiroshi
;
Narumi, Satoshi
, et al.
소스
In
European Journal of Medical Genetics
December 2017 60(12):635-638
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7 . Academic Journal
RMRP‐related short stature: A report of six additional Japanese individuals with cartilage hair hypoplasia and literature review.
저자
by
Uchida, Noboru
;
Ishii, Tomohiro
;
Nishimura, Gen
;
Sato, Takeshi
;
Kuratsuji, Gen
, et al.
소스
American Journal of Medical Genetics. Part A; Jun2024, Vol. 194 Issue 6, p1-7, 7p
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7 . Academic Journal
The IFITM5 Ser40Leu variant can manifest as prenatal Caffey disease.
저자
by
Yap, Jia Ying Celeste
;
Lim, Jiin Ying
;
Bhatia, Anju
;
Tan, Vic Khi June
;
Koo, Stephanie
, et al.
소스
American Journal of Medical Genetics. Part A; Feb2024, Vol. 194 Issue 2, p358-362, 5p
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7 . Academic Journal
Compound heterozygous variants in RAB34 in a rare skeletal ciliopathy syndrome.
저자
by
Batkovskyte, Dominyka
;
Komatsu, Maya
;
Hammarsjö, Anna
;
Pooh, Ritsuko
;
Shimokawa, Osamu
, et al.
소스
Clinical Genetics
. Jan2024, Vol. 105 Issue 1, p87-91. 5p.
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7 . Academic Journal
A Novel Oculo-Skeletal syndrome with intellectual disability caused by a particular MAB21L2 mutation
저자
by
Horn, Denise
;
Prescott, Trine
;
Houge, Gunnar
;
Brække, Kristin
;
Rosendahl, Karen
, et al.
소스
In
European Journal of Medical Genetics
August 2015 58(8):387-391
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