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Hertecant, J
172
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Online (172)
Mediatypes
Articles (Online) (65)
OpenAccess-fulltext (107)
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1
Sa2005 - Genetics of Epcam in Congenital Tufting Enteropath..:
Pathak, S
;
Mueller, J.L.
;
Hertecant, J
...
Gastroenterology. 154 (2018) 6 - p. S-444 , 2018
Link:
https://doi.org/10.1016/..
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2
P336 ABNORMAL LPL RELEASE LEADS TO CHYLOMICRONEMIA IN THE P..:
Arsenault, B.J.
;
Beigneux, A.P.
;
Peelman, F.
...
Atherosclerosis Supplements. 11 (2010) 2 - p. 88 , 2010
Link:
https://doi.org/10.1016/..
?
3
Severe exfoliative erythema of malnutrition in a child with..:
Sander, C. S.
;
Hertecant, J.
;
Abdulrazzaq, Y. M.
.
Clinical and Experimental Dermatology. 34 (2009) 2 - p. 178-182 , 2009
Link:
https://doi.org/10.1111/..
?
4
Abstract: 141 TWO MUTATIONS IN GPIHBP1 CAUSE SEVERE CHYLOMI..:
Franssen, R
;
Beigneux, A
;
Hertecant, J
...
Atherosclerosis Supplements. 10 (2009) 2 - p. e247 , 2009
Link:
https://doi.org/10.1016/..
?
5
A new autosomal recessive syndrome of ocular colobomas, ich..:
Al‐Gazali, L.
;
Hertecant, J.
;
Algawi, K.
..
American Journal of Medical Genetics Part A. 146A (2008) 7 - p. 813-819 , 2008
Link:
https://doi.org/10.1002/..
?
6
Mutations of the E1β subunit gene (PDHB) in four families w..:
Okajima, K.
;
Korotchkina, L.G.
;
Prasad, C.
...
Molecular Genetics and Metabolism. 93 (2008) 4 - p. 371-380 , 2008
Link:
https://doi.org/10.1016/..
?
7
Further delineation of Hennekam syndrome:
Al-Gazali, L. I.
;
Hertecant, J.
;
Ahmed, R.
..
Clinical Dysmorphology. 12 (2003) 4 - p. 227-232 , 2003
Link:
https://doi.org/10.1097/..
?
8
An autosomal recessive syndrome of choanal atresia, hypothe..:
Al-Gazali, L.I.
;
Hamid, Z.
;
Hertecant, J.
...
Clinical Dysmorphology. 11 (2002) 2 - p. 79-85 , 2002
Link:
https://doi.org/10.1097/..
?
9
Lipoprotein lipase deficiency and transient diabetes mellit..:
Raupp, P.
;
Keenan, C.
;
Dowman, M.
..
Journal of Inherited Metabolic Disease. 25 (2002) 5 - p. 413-414 , 2002
Link:
https://doi.org/10.1023/..
?
10
Several homozygous mutations in the gene for 11 beta-hydrox..:
Wilson, R C
;
Harbison, M D
;
Krozowski, Z S
...
The Journal of Clinical Endocrinology & Metabolism. 80 (1995) 11 - p. 3145-3150 , 1995
Link:
https://doi.org/10.1210/..
?
11
Bi‐allelic null variant in matrix metalloproteinase‐15, cau..:
Abdelrahman, Hanadi A.
;
Akawi, Nadia
;
Al‐Shamsi, Aisha M.
...
Clinical Genetics. 101 (2022) 4 - p. 403-410 , 2022
Link:
https://doi.org/10.1111/..
?
12
Expansion of the clinical and molecular spectrum of WWOX‐re..:
Chong, Shuk Ching
;
Cao, Ye
;
Fung, Eva L. W.
...
American Journal of Medical Genetics Part A. 191 (2022) 3 - p. 776-785 , 2022
Link:
https://doi.org/10.1002/..
?
13
Case Report: Reinterpretation and Reclassification of ARSB:..:
Al Dhahouri, Nahid
;
Ali, Amanat
;
Hertecant, Jozef
.
Frontiers in Pediatrics. 9 (2022) - p. , 2022
Link:
https://doi.org/10.3389/..
?
14
Suleiman-El-Hattab syndrome: a histone modification disorde..:
Riedhammer, Korbinian M
;
Burgemeister, Anna L
;
Cantagrel, Vincent
...
Human Molecular Genetics. 31 (2022) 18 - p. 3083-3094 , 2022
Link:
https://doi.org/10.1093/..
?
15
Delayed presentation of late-onset glutamic aciduria type I..:
Arida, Abdul
;
Hamed, Wala
;
Khaddam, Omar
..
Ibnosina Journal of Medicine and Biomedical Sciences. 13 (2021) 3 - p. 148-152 , 2021
Link:
https://doi.org/10.4103/..
1-15