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European Journal of Human Genetics 31
Showing records 1 to 25 | Display all abstracts in European Journal of Human Genetics124922 XRCC4-related microcephalic primordial dwarfism: description of a clinical series of 7 cases, phenotype expansion and new diagnostic approaches
Cuinat S
European Journal of Human Genetics 2025; 0:
124904 Biallelic TEDC1 variants cause a new syndrome with severe growth impairment and endocrine complications
Miyake N
European Journal of Human Genetics 2025; 33: 738-746
124922 XRCC4-related microcephalic primordial dwarfism: description of a clinical series of 7 cases, phenotype expansion and new diagnostic approaches
Chatron N
European Journal of Human Genetics 2025; 0:
124904 Biallelic TEDC1 variants cause a new syndrome with severe growth impairment and endocrine complications
Shiga K
European Journal of Human Genetics 2025; 33: 738-746
124922 XRCC4-related microcephalic primordial dwarfism: description of a clinical series of 7 cases, phenotype expansion and new diagnostic approaches
Petit F
European Journal of Human Genetics 2025; 0:
124904 Biallelic TEDC1 variants cause a new syndrome with severe growth impairment and endocrine complications
Hasegawa Y; Iwabuchi C
European Journal of Human Genetics 2025; 33: 738-746
124922 XRCC4-related microcephalic primordial dwarfism: description of a clinical series of 7 cases, phenotype expansion and new diagnostic approaches
Brunelle P; Dincuff E
European Journal of Human Genetics 2025; 0:
124904 Biallelic TEDC1 variants cause a new syndrome with severe growth impairment and endocrine complications
Shiroshita K
European Journal of Human Genetics 2025; 33: 738-746
124922 XRCC4-related microcephalic primordial dwarfism: description of a clinical series of 7 cases, phenotype expansion and new diagnostic approaches
Aubert Mucca M
European Journal of Human Genetics 2025; 0:
124904 Biallelic TEDC1 variants cause a new syndrome with severe growth impairment and endocrine complications
Kobayashi H; Takubo K
European Journal of Human Genetics 2025; 33: 738-746
124922 XRCC4-related microcephalic primordial dwarfism: description of a clinical series of 7 cases, phenotype expansion and new diagnostic approaches
Bieth E; Schmetz A
European Journal of Human Genetics 2025; 0:
124904 Biallelic TEDC1 variants cause a new syndrome with severe growth impairment and endocrine complications
Velilla F
European Journal of Human Genetics 2025; 33: 738-746
124922 XRCC4-related microcephalic primordial dwarfism: description of a clinical series of 7 cases, phenotype expansion and new diagnostic approaches
Rieder H
European Journal of Human Genetics 2025; 0:
124904 Biallelic TEDC1 variants cause a new syndrome with severe growth impairment and endocrine complications
Maeno A; Kawasaki T
European Journal of Human Genetics 2025; 33: 738-746
124922 XRCC4-related microcephalic primordial dwarfism: description of a clinical series of 7 cases, phenotype expansion and new diagnostic approaches
Wollnik B; Kaulfuß S
European Journal of Human Genetics 2025; 0:
124904 Biallelic TEDC1 variants cause a new syndrome with severe growth impairment and endocrine complications
Imai Y
European Journal of Human Genetics 2025; 33: 738-746
124922 XRCC4-related microcephalic primordial dwarfism: description of a clinical series of 7 cases, phenotype expansion and new diagnostic approaches
Yigit G
European Journal of Human Genetics 2025; 0:
124904 Biallelic TEDC1 variants cause a new syndrome with severe growth impairment and endocrine complications
Sakai N; Hirose T
European Journal of Human Genetics 2025; 33: 738-746
124922 XRCC4-related microcephalic primordial dwarfism: description of a clinical series of 7 cases, phenotype expansion and new diagnostic approaches
McKeown C; Savage T
European Journal of Human Genetics 2025; 0:
124904 Biallelic TEDC1 variants cause a new syndrome with severe growth impairment and endocrine complications
Fujita A
European Journal of Human Genetics 2025; 33: 738-746
124922 XRCC4-related microcephalic primordial dwarfism: description of a clinical series of 7 cases, phenotype expansion and new diagnostic approaches
Mulligan MR
European Journal of Human Genetics 2025; 0:
124904 Biallelic TEDC1 variants cause a new syndrome with severe growth impairment and endocrine complications
Takahashi H
European Journal of Human Genetics 2025; 33: 738-746
124922 XRCC4-related microcephalic primordial dwarfism: description of a clinical series of 7 cases, phenotype expansion and new diagnostic approaches
Bicknell LS
European Journal of Human Genetics 2025; 0:
124904 Biallelic TEDC1 variants cause a new syndrome with severe growth impairment and endocrine complications
Okamoto N
European Journal of Human Genetics 2025; 33: 738-746
124922 XRCC4-related microcephalic primordial dwarfism: description of a clinical series of 7 cases, phenotype expansion and new diagnostic approaches
Corsten-Janssen N
European Journal of Human Genetics 2025; 0:
