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11 . Academic Journal
Structural abnormalities in the palate muscles of patients with cleft palate
저자
by
Rees, Leila
;
Jacques, Thomas
;
Brandner, Sebastian
;
Ellis, Matthew
;
Pauws, Erwin
, et al.
소스
In
Journal of Plastic, Reconstructive & Aesthetic Surgery
October 2014 67(10):1466-1467
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17 . Academic Journal
SNX14 mutations affect endoplasmic reticulum-associated neutral lipid metabolism in autosomal recessive spinocerebellar ataxia 20.
저자
by
Bryant, Dale
;
Yang Liu
;
Datta, Sanchari
;
Hariri, Hanaa
;
Seda, Marian
, et al.
소스
Human Molecular Genetics; 6/1/2018, Vol. 27 Issue 11, p1927-1940, 14p
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17 . Academic Journal
Cutis laxa and excessive bone growth due to de novo mutations in
PTDSS1
.
저자
by
Piard, Juliette
;
Lespinasse, James
;
Vlckova, Marketa
;
Mensah, Martin A.
;
Iurian, Sorin
, et al.
소스
American Journal of Medical Genetics. Part A; Mar2018, Vol. 176 Issue 3, p668-675, 8p
Web of Science
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17 . Academic Journal
Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1
저자
by
Piard, Juliette
;
Lespinasse, James
;
Vlckova, Marketa
;
Mensah, Martin A.
;
Iurian, Sorin
, et al.
소스
American Journal of Medical Genetics Part A
. Mar 01, 2018 176(3):668-675
Web of Science
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17 . Academic Journal
A recessive ataxia diagnosis algorithm for the next generation sequencing era
저자
by
Renaud, Mathilde
;
Tranchant, Christine
;
Martin, Juan Vicente Torres
;
Mochel, Fanny
;
Synofzik, Matthis
, et al.
소스
Annals of Neurology
. Dec 01, 2017 82(6):892-899
Full Text (Wiley)
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17 . Academic Journal
Mutations in HYAL2, Encoding Hyaluronidase 2, Cause a Syndrome of Orofacial Clefting and Cor Triatriatum Sinister in Humans and Mice.
저자
by
Muggenthaler, Martina M. A.
;
Harlalka, Gaurav V.
;
Baple, Emma L.
;
Crosby, Andrew H.
;
Chioza, Barry A.
, et al.
소스
PLoS Genetics
. 1/12/2017, Vol. 13 Issue 1, p1-17. 17p.
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17 . Academic Journal
A new biological and clinical resource for research into pregnancy complications: The Baby Bio Bank.
저자
by
Leon, Lydia J.
;
Solanky, Nita
;
Stalman, Susanne E.
;
Demetriou, Charalambos
;
Abu-Amero, Sayeda
, et al.
소스
Placenta; Oct2016, Vol. 46, p31-37, 7p
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17 . Periodical
Genetic Analyses in Small-for-Gestational-Age Newborns.
저자
by
Stalman, Susanne E
;
Solanky, Nita
;
Ishida, Miho
;
Alemán-Charlet, Cristina
;
Abu-Amero, Sayeda
, et al.
소스
The Journal of Clinical Endocrinology & Metabolism; March 2018, Vol. 103 Issue: 3 p917-925, 9p
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17 . Periodical
Identification of causative variants in TXNL4A in Burn-McKeown syndrome and isolated choanal atresia
저자
by
Goos, Jacqueline A C
;
Swagemakers, Sigrid M A
;
Twigg, Stephen R F
;
van Dooren, Marieke F
;
Hoogeboom, A Jeannette M
, et al.
소스
European Journal of Human Genetics: EJHG; October 2017, Vol. 25 Issue: 10 p1126-1133, 8p
Web of Science
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17 . Academic Journal
Diverse species-specific phenotypic consequences of loss of function sorting nexin 14 mutations
저자
by
Bryant, Dale
;
Seda, Marian
;
Peskett, Emma
;
Maurer, Constance
;
Pomeranz, Gideon
, et al.
소스
SCIENTIFIC REPORTS
; AUG 13 2020, 10 1, p13763 11p.
Scopus
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